Talk:Abnormal Development - Twinning: Difference between revisions

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PMID: 19714240 [PubMed - indexed for MEDLINE]
PMID: 19714240 [PubMed - indexed for MEDLINE]


==GDF9 and BMP15 are both expressed in human oocytes and play important roles in folliculogenesis.==
 
 
===The efficacy of Quintero staging system to assess severity of twin-twin transfusion syndrome treated with laser therapy: a systematic review with meta-analysis===
Am J Perinatol. 2009 Aug;26(7):537-44. Epub 2009 Mar 12.
 
Rossi AC, D'Addario V.
Source
IV Clinic of Obstetrics and Gynecology, University of Bari, Italy. acristinarossi@yahoo.it
 
Abstract
 
Severity of twin-twin transfusion syndrome (TTTS) is classified in five stages according to Quintero staging. However, the efficacy of such staging was recently debated. We reviewed the efficacy of Quintero staging to predict survival rate in TTTS treated with laser therapy. Articles reporting survival rate for each stage in TTTS treated with laser therapy were reviewed. Number of twins alive per pregnancy (NAP) was compared between early (I + II) and advanced (III + IV) stages and within stages. Meta-analysis was performed according to Meta-analysis Of Observational Studies in Epidemiology guidelines. Heterogeneity was tested with chi-square for heterogeneity at a significance level of P < 0.10, and random or fixed models were generated as appropriate. A P value < 0.05 was considered statistically significant. NAP was similar between early (zero survivors: 34/228, 15%; one survivor: 49/228, 21%; two survivors: 145/228, 63%) and advanced stages (zero survivors: 38/214, 18%; one survivor: 64/214, 30%; two survivors: 112/214, 52%; P > 0.05) except for one survivor ( P < 0.05). A trend for increased NAP was observed in all stages. Because clinically relevant differences were not observed, laser therapy is the optimal treatment for all stages. As Quintero staging does not provide information about prognosis, a new staging system is proposed.
 
PMID: 19283655
 
==2006==
===GDF9 and BMP15 are both expressed in human oocytes and play important roles in folliculogenesis===
* A dominant-negative mutation in BMP15 identified in Italian sisters causes ovarian dysgenesis
* A dominant-negative mutation in BMP15 identified in Italian sisters causes ovarian dysgenesis
* higher frequencies of rare mutations in both GDF9 and BMP15 in patients with premature ovarian failure (POF)
* higher frequencies of rare mutations in both GDF9 and BMP15 in patients with premature ovarian failure (POF)
Line 164: Line 180:


http://www.ncbi.nlm.nih.gov/pubmed/16508750
http://www.ncbi.nlm.nih.gov/pubmed/16508750
==1999==
===Staging of twin-twin transfusion syndrome===
J Perinatol. 1999 Dec;19(8 Pt 1):550-5.
Quintero RA, Morales WJ, Allen MH, Bornick PW, Johnson PK, Kruger M.
Source
Florida Institute for Fetal Diagnosis and Therapy, Tampa, USA.
Abstract
OBJECTIVE:
The purpose of this study was to evaluate the prognostic value of sonographic and clinical parameters to develop a staging classification of twin-twin transfusion syndrome (TTTS).
STUDY DESIGN:
Severe TTTS was defined as the presence of polyhydramnios (maximum vertical pocket of > or = 8 cm) and oligohydramnios (maximum vertical pocket of < or = 2 cm). Nonvisualization of the bladder in the donor twin (-BDT) and absence of presence of hydrops was also noted. The middle cerebral artery, umbilical artery, ductus venosus, and umbilical vein in both fetuses were assessed with pulsed Doppler. Critically abnormal Doppler studies (CADs) were defined as absent/reverse end-diastolic velocity in the umbilical artery, reverse flow in the ductus venosus, or pulsatile flow in the umbilical vein. TTTS was staged as follows: stage I, BDT still visible; stage II, BDT no longer visible, no CADs; stage III, CADs; stage IV, hydrops; stage V, demise of one or both twins. Laser photocoagulation of communicating vessels (LPCV) or umbilical cord ligation was performed depending on the severity of the condition. The study was approved by the Institutional Review Board of St. Joseph's Hospital in Tampa and by the Fetal Therapy Board at Hutzel Hospital, Detroit, and all patients gave informed consent.
RESULTS:
A total of 80 of 108 referred patients met criteria for surgery, but only 65 were treated surgically: 48 with LPCV and 17 with umbilical cord ligation. Complete Doppler data were obtainable in 41 of 48 LPCV patients. Survival rates by stage for one or two fetuses were statistically different (chi-squared analysis = 12.9, df = 6, p = 0.044). Neither percent size discordance nor gestational age at diagnosis were predictive of outcome.
CONCLUSION:
Staging of TTTS using the proposed criteria has prognostic significance. This staging system may allow comparison of outcome data of TTTS with different treatment modalities.
PMID: 10645517


==Prevalence of premature ovarian failure in monozygotic and dizygotic twins==
==Prevalence of premature ovarian failure in monozygotic and dizygotic twins==

Revision as of 23:45, 3 May 2011

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Cite this page: Hill, M.A. (2024, March 28) Embryology Abnormal Development - Twinning. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Abnormal_Development_-_Twinning

2011

Birth weight in a large series of triplets

BMC Pediatr. 2011 Apr 1;11(1):24. [Epub ahead of print]

Lamb DJ, Middeldorp CM, van Beijsterveldt CE, Vink JM, Haak MC, Boomsma DI.

Abstract ABSTRACT:

BACKGROUND: Triplets are often born premature and with a low birth weight. Because the incidence of triplet births is rare, there are relatively few studies describing triplet birth weight characteristics. Earlier studies are often characterized by small sample sizes and lack information on important background variables such as zygosity. The objective of this study is to examine factors associated with birth weight in a large, population-based sample of triplets registered with the Netherlands Twin Register (NTR).

METHOD: S In a sample of 1230 triplets from 410 families, the effects of assisted reproductive techniques, zygosity, birth order, gestational age, sex, maternal smoking and alcohol consumption during pregnancy on birth weight were assessed. The resemblance among triplets for birth weight was estimated as a function of zygosity. Birth weight discordance within families was studied by the pair-wise difference between triplets, expressed as a percentage of the birth weight of the heaviest child. We compare data from triplets registered with the NTR with data from population records, which include live births, stillbirths and children that have deceased within days after birth.

RESULTS: There was no effect of assisted reproductive techniques on triplet birth weight. At gestational age 24 to 40 weeks triplets gained on average 130 grams per week; boys weighed 110 grams more than girls and triplets of smoking mothers weighted 104 grams less than children of non-smoking mothers. Monozygotic triplets had lower birth weights than di- and trizygotic triplets and birth weight discordance was smaller in monozygotic triplets than in dizygotic and trizygotic triplets. The correlation in birth weight among monozygotic and dizygotic triplets was 0.42 and 0.32, respectively. In nearly two-thirds of families, the heaviest and the lightest triplet had a birth weight discordance over 15%. The NTR sample is representative for the Dutch triplet population that is still alive 28 days after birth.

CONCLUSIONS: Birth weight is an important determinant of childhood development. Triplet status, gestational age, sex, zygosity and maternal smoking affect birth weight. The combined effects amount to a difference of 364 grams between monozygotic girl triplets of smoking mothers compared to dizygotic boy triplets of non-smoking mothers of the same gestational age. Birth weight in triplets is also influenced by genetic factors, as indicated by a larger correlation in monozygotic than in di- and trizygotic triplets.

PMID: 21453554 http://www.ncbi.nlm.nih.gov/pubmed/21453554

http://www.biomedcentral.com/1471-2431/11/24

2010

A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins.

Hum Reprod. 2010 Jun;25(6):1569-80. Epub 2010 Apr 8.

Painter JN, Willemsen G, Nyholt D, Hoekstra C, Duffy DL, Henders AK, Wallace L, Healey S, Cannon-Albright LA, Skolnick M, Martin NG, Boomsma DI, Montgomery GW.

Molecular Epidemiology, Genetic Epidemiology and Neurogenetics Laboratories, Queensland Institute of Medical Research, Brisbane, Australia. jodie.painter@qimr.edu.au Abstract

BACKGROUND: The tendency to conceive dizygotic (DZ) twins is a complex trait influenced by genetic and environmental factors. To search for new candidate loci for twinning, we conducted a genome-wide linkage scan in 525 families using microsatellite and single nucleotide polymorphism marker panels.

METHODS AND RESULTS: Non-parametric linkage analyses, including 523 families containing a total of 1115 mothers of DZ twins (MODZT) from Australia and New Zealand (ANZ) and The Netherlands (NL), produced four linkage peaks above the threshold for suggestive linkage, including a highly suggestive peak at the extreme telomeric end of chromosome 6 with an exponential logarithm of odds [(exp)LOD] score of 2.813 (P = 0.0002). Since the DZ twinning rate increases steeply with maternal age independent of genetic effects, we also investigated linkage including only families where at least one MODZT gave birth to her first set of twins before the age of 30. These analyses produced a maximum expLOD score of 2.718 (P = 0.0002), largely due to linkage signal from the ANZ cohort, however, ordered subset analyses indicated this result is most likely a chance finding in the combined dataset. Linkage analyses were also performed for two large DZ twinning families from the USA, one of which produced a peak on chromosome 2 in the region of two potential candidate genes. Sequencing of FSHR and FIGLA, along with INHBB in MODZTs from two large NL families with family specific linkage peaks directly over this gene, revealed a potentially functional variant in the 5' untranslated region of FSHR that segregated with the DZ twinning phenotype in the Utah family.

CONCLUSION: Our data provide further evidence for complex inheritance of familial DZ twinning.

PMID: 20378614 http://www.ncbi.nlm.nih.gov/pubmed/20378614


2009

Fetal volume and crown-rump length from 7 to 10 weeks of gestational age in singletons and twins

Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):32-5. Epub 2009 Apr 21. Martins WP, Nastri CO, Barra DA, Navarro PA, Mauad Filho F, Ferriani RA.

Escola de Ultra-sonografia de Ribeirão Preto (EURP) e Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil. wpmartins@gmail.com Abstract OBJECTIVE(S): We intend to verify if fetal volume and crown-rump length were different between singletons and twins in pregnancies aged from 7 to 10 weeks and to evaluate if fetal volume is more accurate to determine the gestational age than crown-rump length at this gestational age.

STUDY DESIGN: From 52 days (7 weeks and 3 days) to 73 days (10 weeks and 3 days) weekly three-dimensional ultrasonography was performed in 20 twin fetuses and 20 singletons. Crown-rump length and fetal volume using VOCAL were assessed in all examinations. The 'true' gestational age was based on oocyte retrieval.

RESULTS: At the age of 52 days, the crown-rump length was 11.74+/-0.27 mm (mean+/-S.D.) and 11.48+/-0.22 mm (singletons and twins, respectively), while the fetal volume was 0.354+/-0.015 cm(3) and 0.324+/-0.012 cm(3). At the gestational age of 73 days, the crown-rump length was 36.19+/-0.90 mm and 35.87+/-0.54 mm and the fetal volume was 6.204+/-0.090 cm(3) and 6.083+/-0.081 cm(3). The total relative increase observed was much higher for fetal volume than for CRL: 1705+/-301% vs. 210+/-33% in singletons and 1827+/-305% vs. 214+/-25% in twins. The 95% limits of agreement (+/-2.3 days vs.+/-3.2 days, fetal volume vs. crown-rump length) and the intraclass correlation coefficients (0.989 vs. 0.978) between the "true" gestational age and that predicted by fetal volume were better than those predicted by crown-rump length. No significant difference was identified between singletons and twins for both fetal volume and crown-rump length.

CONCLUSION(S): Twins and singletons had similar fetal volume and crown-rump length between the 7th and 10th week of gestational age. Additionally, fetal volume assessed by VOCAL was better than crown-rump length to estimate the gestational age at the evaluated period. However, the improvement was small and probably without clinical significance. CONDENSATION: Fetal volume and crown-rump length were similar between singletons and twins. Fetal volume relative increase was higher and the predicted gestational age was better.

PMID: 19386409


Early research on human genetics using the twin method: who really invented the method?

Twin Res Hum Genet. 2009 Jun;12(3):237-45.

Mayo O.

CSIRO Livestock Industries, Australia. Oliver.Mayo@csiro.au

Abstract The twin method consists of a formal comparison between the resemblance between identical (monozygotic, MZ) twins and the resemblance between fraternal (dizygotic, DZ) twins for some trait of interest. It was developed between 1900 and about 1940, as more accurate tools for diagnosis of zygosity and for statistically analyzing the resemblance between relatives were built. Its early use was in the demonstration that a trait was inherited or that part of the causation of a trait was genetical, but it has now evolved to the point that twin registries constitute an important resource for the identification of specific genes and their interactions both with other genes and with the internal and external environment. Who really invented the method is still an unsettled question, which this article explores.

PMID: 19456215


Traces of embryogenesis are the same in monozygotic and dizygotic twins: not compatible with double ovulation.

Hum Reprod. 2009 Jun;24(6):1255-66. Epub 2009 Feb 27.

Boklage CE.

Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA. boklagec@ecu.edu Abstract Common knowledge of over a century has it that monozygotic and dizygotic twinning events occur by unrelated mechanisms: monozygotic twinning 'splits' embryos, producing anomalously re-arranged embryogenic asymmetries; dizygotic twinning begins with independent ovulations yielding undisturbed parallel embryogeneses with no expectation of departures from singleton outcomes. The anomalies statistically associated with twin births are due to the re-arranged embryos of the monozygotics. Common knowledge further requires that dizygotic pairs are dichorionic; monochorionicity is exclusive to monozygotic pairs. These are fundamental certainties in the literature of twin biology. Multiple observations contradict those common knowledge understandings. The double ovulation hypothesis of dizygotic twinning is untenable. Girl-boy twins differ subtly from all other humans of either sex, absolutely not representative of all dizygotics. Embryogenesis of dizygotic twins differs from singleton development at least as much as monozygotic embryogenesis does, and in the same ways, and the differences between singletons and twins of both zygosities represent a coherent system of re-arranged embryogenic asymmetries. Dizygotic twinning and monozygotic twinning have the same list of consequences of anomalous embryogenesis. Those include an unignorable fraction of dizygotic pairs that are in fact monochorionic, plus many more sharing co-twins' cells in tissues other than a common chorion. The idea that monozygotic and dizygotic twinning events arise from the same embryogenic mechanism is the only plausible hypothesis that might explain all of the observations.

PMID: 19252194

Heritability of testis size

Twin Res Hum Genet. 2009 Aug;12(4):351-5.

Estourgie-van Burk GF, Bartels M, Delemarre-van de Waal HA, Boomsma DI.

Department of Pediatrics, VU University Medical Center, Amsterdam, the Netherlands. f.estourgie@vumc.nl Abstract Testis size is an important feature of male pubertal development. The genetic and environmental contributions to variation in human testis size have hardly been studied. We estimated the heritability of human testicular size in a group of mono- and dizygotic twins and their non-twin brothers (145 twins and 20 brothers from 95 families). Participants were 18 years old on average and all had reached Tanner development stage 4 or higher. Dizygotic twins and their siblings had a larger mean testis volume than monozygotic twins and their siblings. There was significant familial resemblance, with higher correlations in monozygotic twin pairs (0.59) than in dizygotic twin and sibling pairs (0.34). Heritability was estimated at 59% (95% CI = 37-75%), but a model that excluded genetic influences and attributed all familial resemblance to shared environment, fitted the data only marginally worse. The finding of larger mean testis volume in dizygotic twins may be of interest for future research into the mechanisms underlying dizygotic twinning.

PMID: 19653835


Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

Eur J Hum Genet. 2009 Dec;17(12):1625-34. Epub 2009 Jun 10.

Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM.

Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. j.bliek@amc.uva.nl Abstract The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and a triplet; seven twins are MZ, monochorionic and diamniotic, three twins are MZ, dichorionic and diamniotic and three twins are dizygotic. Twelve twins are female. In the majority of the twin pairs (11 of 13), the defect on chromosome 11p15 was hypomethylation of the paternal allele of DMR2. In 5 of 10 twins, there was additional hypomethylation of imprinted loci; in most cases, the loci affected were maternally methylated, but in two cases, hypomethylation of the paternally methylated DLK1 and H19 DMRs was detected, a novel finding in BWS. In buccal swabs of the MZ twins who share a placenta, the defect was present only in the affected twin; comparable hypomethylation in lymphocytes was detected in both the twins. The level of hypomethylation reached levels below 25%. The exchange of blood cells through vascular connections cannot fully explain the degree of hypomethylation found in the blood cell of the non-affected twin. We propose an additional mechanism through which sharing of aberrant methylation patterns in discordant twins, limited to blood cells, might occur. In a BWS-discordant MZ triplet, an intermediate level of demethylation was found in one of the non-affected sibs; this child showed mild signs of BWS. This finding supports the theory that a methylation error proceeds and possibly triggers the twinning process.

PMID: 19513094 [PubMed - indexed for MEDLINE]

Mortality risk among preterm babies: immaturity versus underlying pathology.

Epidemiology. 2010 Jul;21(4):521-7.

Basso O, Wilcox A.

Epidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA. olga.basso@mcgill.ca Abstract BACKGROUND: Deaths among preterm births are presumably due to both immaturity and the conditions that cause preterm birth. Their relative contributions are unknown.

METHODS: Using US birth certificates (1995-2002), we estimated what portion of preterm neonatal mortality may be attributable to immaturity alone. Twins have elevated mortality, yet they usually have lower mortality than singletons at most preterm weeks. Twinning itself is a cause of early birth. Thus, at any given preterm week, singletons are more likely than twins to have pathologic causes of preterm delivery. If any such cause is associated with a mortality risk higher than that conferred by twinning, it is possible for singletons to have higher mortality than twins at some preterm weeks. Thus, mortality of twins at those weeks comes closer to describing the risk due to immaturity itself. To exclude high-risk babies, we focused on singletons and twins least likely to have suffered fetal growth disruptions (ie, those with "optimal" birth weight). At each gestational week from 24 to 36, we identified (for twins and singletons separately) the 500-gram weight category with the lowest neonatal mortality, and selected the lower of the 2 mortality rates.

RESULTS: Using the above as our best estimates of mortality due to immaturity alone, we calculated that about half the mortality of singleton preterm babies was due to the pathologies that cause early delivery.

CONCLUSIONS: Factors that cause preterm birth apparently contribute a large proportion of preterm mortality. If so, the prevention of preterm mortality requires more than the postponement of delivery.

PMID: 20407380 http://www.ncbi.nlm.nih.gov/pubmed/20407380

Temporal and territorial analysis of multiple deliveries in Spain (1900-2006).

Twin Res Hum Genet. 2010 Apr;13(2):207-16.

Fuster V, Zuluaga P, Román-Busto J, Colantonio SE.

Department of Zoology and Physical Anthropology, Faculty of Biology, Complutense University of Madrid and GEPS, Spain. vfuster@bio.ucm.es

Abstract Temporal variations in the frequency of multiple maternities in many Western European countries have been described. However, within a single country, regional differences are observed. Urban industrialized regions and rural agricultural areas have experienced in recent decades a distinct decline in multiple deliveries, which in cases have been related to maternal age and parity changes. Research on multiple deliveries in Spain is scarce and none of the studies go back to the beginning of the 20th century or consider regional variation over an extended period of time. The present paper is a yearly study on multiple deliveries in Spain since 1900 including a geographical analysis. Rather than dealing with recent changes in multi-parity, this paper is concerned with Spain's long-term national variation (between 1900 and 2006). The changing pattern of double and triple deliveries was analyzed using data from the Spanish National Statistics Institute (INE). Twinning rates in Spain are low in comparison to those of equivalent periods in other countries, and the minimum rates correspond to the 1980s decade. Results were interpreted by taking into account the influence of age at maternity and reproductive variation up to 1990. A good fit between observed and predicted rates was obtained after the application of models, which besides maternal age and parity, include their interaction. Regarding territorial variability, the values corresponding to southern, northern and insular Spanish provinces are consistent with an earlier reduction of the crude birth rate in the north-east regions and latter in the southern regions and the Canary Islands.

PMID: 20397751 http://www.ncbi.nlm.nih.gov/pubmed/20397751

Long-term neurodevelopmental outcome of monochorionic and matched dichorionic twins.

PLoS One. 2009 Aug 28;4(8):e6815.

Hack KE, Koopman-Esseboom C, Derks JB, Elias SG, de Kleine MJ, Baerts W, Go AT, Schaap AH, van der Hoeven MA, Eggink AJ, Sollie KM, Weisglas-Kuperus N, A Visser GH.

Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands. k.e.a.hack@umcutrecht.nl Abstract BACKGROUND: Monochorionic (MC) twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS) or intrauterine co-twin death) or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC) twins at the age of two years.

METHODS: This was a prospective cohort study. Cerebral palsy (CP) was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (un)alikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner.

FINDINGS: Four out of 182 MC infants had CP (2.2%) - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death) and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5-38.2) of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7%) had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0-1.4). Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its larger co-twin.

CONCLUSIONS: There were no significant differences in occurrence of cerebral palsy as well as neurodevelopmental outcome between MC and DC twins. Outcome of MC twins seems favourable in the absence of TTTS or co-twin death.

PMID: 19714240 [PubMed - indexed for MEDLINE]


The efficacy of Quintero staging system to assess severity of twin-twin transfusion syndrome treated with laser therapy: a systematic review with meta-analysis

Am J Perinatol. 2009 Aug;26(7):537-44. Epub 2009 Mar 12.

Rossi AC, D'Addario V. Source IV Clinic of Obstetrics and Gynecology, University of Bari, Italy. acristinarossi@yahoo.it

Abstract

Severity of twin-twin transfusion syndrome (TTTS) is classified in five stages according to Quintero staging. However, the efficacy of such staging was recently debated. We reviewed the efficacy of Quintero staging to predict survival rate in TTTS treated with laser therapy. Articles reporting survival rate for each stage in TTTS treated with laser therapy were reviewed. Number of twins alive per pregnancy (NAP) was compared between early (I + II) and advanced (III + IV) stages and within stages. Meta-analysis was performed according to Meta-analysis Of Observational Studies in Epidemiology guidelines. Heterogeneity was tested with chi-square for heterogeneity at a significance level of P < 0.10, and random or fixed models were generated as appropriate. A P value < 0.05 was considered statistically significant. NAP was similar between early (zero survivors: 34/228, 15%; one survivor: 49/228, 21%; two survivors: 145/228, 63%) and advanced stages (zero survivors: 38/214, 18%; one survivor: 64/214, 30%; two survivors: 112/214, 52%; P > 0.05) except for one survivor ( P < 0.05). A trend for increased NAP was observed in all stages. Because clinically relevant differences were not observed, laser therapy is the optimal treatment for all stages. As Quintero staging does not provide information about prognosis, a new staging system is proposed.

PMID: 19283655

2006

GDF9 and BMP15 are both expressed in human oocytes and play important roles in folliculogenesis

  • A dominant-negative mutation in BMP15 identified in Italian sisters causes ovarian dysgenesis
  • higher frequencies of rare mutations in both GDF9 and BMP15 in patients with premature ovarian failure (POF)

Dixit H, Rao LK, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, Chakrabarty B, Singh L. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum Genet (2006) 119:408–415.

http://www.ncbi.nlm.nih.gov/pubmed/16508750

1999

Staging of twin-twin transfusion syndrome

J Perinatol. 1999 Dec;19(8 Pt 1):550-5.

Quintero RA, Morales WJ, Allen MH, Bornick PW, Johnson PK, Kruger M. Source Florida Institute for Fetal Diagnosis and Therapy, Tampa, USA.

Abstract

OBJECTIVE: The purpose of this study was to evaluate the prognostic value of sonographic and clinical parameters to develop a staging classification of twin-twin transfusion syndrome (TTTS).

STUDY DESIGN: Severe TTTS was defined as the presence of polyhydramnios (maximum vertical pocket of > or = 8 cm) and oligohydramnios (maximum vertical pocket of < or = 2 cm). Nonvisualization of the bladder in the donor twin (-BDT) and absence of presence of hydrops was also noted. The middle cerebral artery, umbilical artery, ductus venosus, and umbilical vein in both fetuses were assessed with pulsed Doppler. Critically abnormal Doppler studies (CADs) were defined as absent/reverse end-diastolic velocity in the umbilical artery, reverse flow in the ductus venosus, or pulsatile flow in the umbilical vein. TTTS was staged as follows: stage I, BDT still visible; stage II, BDT no longer visible, no CADs; stage III, CADs; stage IV, hydrops; stage V, demise of one or both twins. Laser photocoagulation of communicating vessels (LPCV) or umbilical cord ligation was performed depending on the severity of the condition. The study was approved by the Institutional Review Board of St. Joseph's Hospital in Tampa and by the Fetal Therapy Board at Hutzel Hospital, Detroit, and all patients gave informed consent.

RESULTS: A total of 80 of 108 referred patients met criteria for surgery, but only 65 were treated surgically: 48 with LPCV and 17 with umbilical cord ligation. Complete Doppler data were obtainable in 41 of 48 LPCV patients. Survival rates by stage for one or two fetuses were statistically different (chi-squared analysis = 12.9, df = 6, p = 0.044). Neither percent size discordance nor gestational age at diagnosis were predictive of outcome.

CONCLUSION: Staging of TTTS using the proposed criteria has prognostic significance. This staging system may allow comparison of outcome data of TTTS with different treatment modalities.

PMID: 10645517

Prevalence of premature ovarian failure in monozygotic and dizygotic twins

http://www.ncbi.nlm.nih.gov/pubmed/17065173

http://humrep.oxfordjournals.org/cgi/content/abstract/22/2/610


http://humupd.oxfordjournals.org/cgi/content/full/14/1/37?view=long&pmid=18024802