Talk:BGD Tutorial - Applied Embryology and Teratology

From Embryology


Updating what's in the news

Whats in the News?  
  • Maternal Vaccination - The Safety of Influenza and Pertussis Vaccination in Pregnancy in a Cohort of Australian Mother-Infant Pairs, 2012-2015: The FluMum Study[1] "Inactivated influenza vaccine (IIV) and pertussis vaccination are recommended in pregnancy. Limited safety data exist for women who received IIV vaccine during the first trimester of pregnancy or received both vaccines in pregnancy. We assessed adverse birth outcomes between vaccinated and unvaccinated pregnancies. METHODS: Among prospectively enrolled Australian "FluMum" participants (2012-2015), primary exposure was receipt and timing of IIV during pregnancy. Primary outcomes included preterm birth, low birthweight at term (LBWT), and small for gestational age (SGA). We compared birth outcomes for IIV in pregnancy with women unvaccinated in pregnancy using Cox proportional hazard ratios (HRs) with 95% confidence intervals (CIs). ...No significant associations were found between maternal IIV or pertussis vaccination in pregnancy and adverse birth outcomes, regardless of the trimester of pregnancy a vaccination was given compared to unvaccinated pregnancies."
  • Gastroenteritis - Perinatal Risk Factors Associated With Gastroenteritis Hospitalizations in Aboriginal and Non-Aboriginal Children in Western Australia (2000-2012): A Record Linkage Cohort Study[2] "Gastroenteritis is a leading cause of childhood morbidity worldwide. We aimed to assess the maternal and infant characteristics and population attributable fractions associated with childhood gastroenteritis-related hospitalizations. METHODS: We conducted a whole-of-population retrospective birth cohort study of 367,476 children live-born in Western Australia 2000-2012. We identified hospital admissions up to <15 years of age pertaining to these children, with a principal diagnosis code for infectious gastroenteritis. Cox regression was used to obtain the adjusted hazard ratios with 95% confidence intervals and the population attributable fractions associated with each risk factor in Aboriginal and non-Aboriginal children for their first gastroenteritis-related hospital admission. ...Given the beneficial effect of infant rotavirus vaccination in preventing all-cause gastroenteritis hospitalization, efforts should be taken to optimize rotavirus vaccine coverage in those at highest risk."
  • intrauterine Growth Restriction Human papillomavirus infection and intrauterine growth restriction: a data-linkage study[3] "Using unbiased population data, to examine whether having a positive Pap smear, and thus a high probability of Human Papilloma Virus (HPV) infection, is a significant risk factor for intrauterine growth restriction (IUGR) in a subsequent pregnancy. STUDY DESIGN AND METHODS: Two independent population-based databases, namely the South Australian Perinatal Statistics Collection and the South Australian Cervical Screening Database, were deidentified and linked by the SANT Datalinkage Service. Analyses were performed on cases where Pap smear screening data was available for up to 2 years prior to a singleton live birth. Population characteristics and pregnancy related data were compared statistically by normal birth weight versus IUGR (10th percentile - known as small for gestational age (SGA), small for gestational age) and (3rd percentile birth weight - known as VLBW, very low birth weight). The association between cervical screening results and IUGR was assessed using generalized linear log binomial regression models. RESULTS: A total of 31,827 women met the criteria. Of these, 1311 women (4.1%) had a positive Pap smear within 2 years of the current pregnancy. Those having a positive Pap smear were more likely to have a baby with IUGR than those with negative smear results. For SGA, 5.8% babies were from mothers with positive Pap smears compared to 4.0% with negative smears indicating a 40% higher risk of having an SGA baby (95%CI 20-70%) among women with positive Pap smears. For VLBW, 7.6% mothers had positive Pap smears compared with 4.0% with negative smears (p < .001), which reflects a 90% increased risk (95%CI 40-150%). These associations reduced to 20% (95%CI 1-40%) and 50% (95%CI 10-100%) for SGA and VLBW, respectively, after adjusting for all other significant covariates including maternal age, ethnicity, marital status, occupation, smoking, pregnancy history, and maternal health during pregnancy. CONCLUSIONS: Mothers with a positive Pap smear have an increased risk of IUGR, especially for VLBW, which is independent of other risk factors. The results confirm previous findings in a small study and emphasise the need to consider the risks of both cancer and IUGR in all HPV vaccination programs."
Pregnancy Care Guidelines 2018

This edition brings together the two previous modules and contains updates of a number of topics from them, including weight and body mass index (weight monitoring reviewed), fetal growth and wellbeing, risk of preterm birth, risk of pre-eclampsia (risk factors and prediction reviewed), family violence, hyperglycaemia (early testing reviewed), hepatitis C, thyroid dysfunction, vitamin D status and chromosomal anomalies (cell- free DNA testing reviewed). The new topic substance use has also been incorporated.

See also The Australian Immunisation Handbook 10th edition (2015) Canberra: Australian Government Department of Health. ISBN: 978-1-74241-861-2 Online ISBN: 978-1-74241-862-9..

  • drugs - Maternal antibiotic exposure during pregnancy and hospitalization with infection in offspring: a population-based cohort study[5] "The early life microbiome contributes to immune development. Antibiotics during pregnancy alter the microbiome and may influence disease risks in the offspring. We investigated the relationship between maternal antibiotic exposure before and during pregnancy, and risk of childhood hospitalization with infection. METHODS: We used population-based Danish national databases for pregnancies between 1995 and 2009. ...Antibiotic exposure before or during pregnancy was associated with increased risk of childhood hospitalized infections. Alteration of the maternally derived microbiome and shared heritable and environmental determinants are possible contributory mechanisms."
  • Assisted Reproductive Technology - New research shows that women who start the IVF process while aged between 30 to 34 have a 43.4 per cent chance of a live birth. Med J Aust 2017; 207 (3): 1. doi: 10.5694/mja16.01435 MJA - ABC - SMH
Australia - insulin-treated diabetes by type 2015
Australia - insulin-treated diabetes by type 2015

Incidence of insulin-treated diabetes in Australia 2015 [6] provides the latest available national data on new cases of insulin-treated diabetes in Australia.

It shows that in 2015 there were 28,775 people who began using insulin to treat their diabetes in Australia:

  • 63% had type 2 diabetes
  • 26% (18,142) had gestational diabetes
  • 9% had type 1 diabetes
  • 2% had other forms of diabetes or their diabetes status was unknown.

In 2015, 7,405 women began using insulin to manage gestational diabetes—130 cases per 100,000 women of reproductive age (15–49 years), or around 1 in every 800 women aged 15–49. This represents almost 1 in 4 (24%) women diagnosed with gestational diabetes aged 15–49 in 2015.

Gestational diabetes occurs when higher than normal blood glucose is diagnosed for the first time during pregnancy. It generally occurs in the second or third trimester, among women who have not previously been diagnosed with other forms of diabetes.

Community immunity cartoon.jpg
Postnatal - Vaccination - 2011 ABC - Autism vaccine study 'an elaborate fraud'
  • Australian Health - Vaccination Data Hub "The disease which requires the highest level of vaccine coverage to achieve herd immunity is measles as it is highly infectious. It is estimated that coverage of 92-94% is required for herd immunity from this virus"
  • Measles (rubeola) is a paramyxovirus appearing mainly as a respiratory viral infection, clinically different from Rubella. A single-stranded RNA virus which is highly contagious. Before measles vaccination (USA 1963) more than 90% of children had an infection before puberty and in developing countries it is still a common and often fatal childhood disease. Childhood immunisation and immunity persists in only about 80% of adults.
  • Pregnancy effects of measles results in a higher risk of premature labor, spontaneous abortion, low-birth-weight, and possibly rare cases of birth defects with no definable pattern of malformation.[7]
News - Complete human day 14 post-implantation embryo models from naïve Embryonic Stem Cells
Carnegie Stage 6 Embryo
Carnegie Stage 6 Embryo

This recent Nature paper[8] describes the use of naïve human Embryonic Stem Cells to recapitulate the early stages of human development.

"The ability to study human post-implantation development remains limited due to ethical and technical challenges associated with intrauterine development after implantation....only genetically unmodified human naïve human ES cells...recapitulate the organization of nearly all known lineages and compartments of post-implantation human embryos including epiblast, hypoblast, extra-embryonic mesoderm, and trophoblast surrounding the latter layers...These human complete SEMs demonstrated developmental growth dynamics that resemble key hallmarks of post-implantation stage embryogenesis up to 13-14 days post-fertilization (dpf) (Carnegie stage 6a)."

Links: stem cells | Carnegie stage 6
  1. McHugh L, Marshall HS, Perrett KP, Nolan T, Wood N, Lambert SB, Richmond P, Ware RS, Binks P, Binks MJ & Andrews RM. (2019). The Safety of Influenza and Pertussis Vaccination in Pregnancy in a Cohort of Australian Mother-Infant Pairs, 2012-2015: The FluMum Study. Clin. Infect. Dis. , 68, 402-408. PMID: 30475988 DOI.
  2. Fathima P, Snelling TL, de Klerk N, Lehmann D, Blyth CC, Waddington CS & Moore HC. (2019). Perinatal Risk Factors Associated With Gastroenteritis Hospitalizations in Aboriginal and Non-Aboriginal Children in Western Australia (2000-2012): A Record Linkage Cohort Study. Pediatr. Infect. Dis. J. , 38, 169-175. PMID: 29620723 DOI.
  3. Ford JH, Li M, Scheil W & Roder D. (2019). Human papillomavirus infection and intrauterine growth restriction: a data-linkage study. J. Matern. Fetal. Neonatal. Med. , 32, 279-285. PMID: 28889772 DOI.
  4. Department of Health (2018) Clinical Practice Guidelines: Pregnancy Care. Canberra: Australian Government Department of Health. (5 June 2019)
  5. Miller JE, Wu C, Pedersen LH, de Klerk N, Olsen J & Burgner DP. (2018). Maternal antibiotic exposure during pregnancy and hospitalization with infection in offspring: a population-based cohort study. Int J Epidemiol , , . PMID: 29415232 DOI.
  6. AIHW 2017. Incidence of insulin-treated diabetes in Australia, 2015. Diabetes series no. 27. Cat. no. CVD 78. Canberra: AIHW. Viewed 20 February 2017
  7. Chiba ME, Saito M, Suzuki N, Honda Y & Yaegashi N. (2003). Measles infection in pregnancy. J. Infect. , 47, 40-4. PMID: 12850161
  8. Oldak B, Wildschutz E, Bondarenko V, Comar MY, Zhao C, Aguilera-Castrejon A, Tarazi S, Viukov S, Pham TXA, Ashouokhi S, Lokshtanov D, Roncato F, Ariel E, Rose M, Livnat N, Shani T, Joubran C, Cohen R, Addadi Y, Chemla M, Kedmi M, Keren-Shaul H, Pasque V, Petropoulos S, Lanner F, Novershtern N & Hanna JH. (2023). Complete human day 14 post-implantation embryo models from naïve ES cells. Nature , , . PMID: 37673118 DOI.
Older News Articles  
Older News Articles - Climate Change Abnormal Development | Air Pollution | Rare Sesquizygotic Twinning | Australia's mothers and babies 2017 | Spinal Muscular Atrophy Screening | Australian 2018 Pregnancy Care Guidelines | CRISPR | Ronan O’Rahilly
AIHW Report - Folic acid and iodine fortification (2016)
Folic acid and iodine fortification (2016)[1]

  • Mandatory fortification of bread with folic acid (in Australia) and iodine (in Australia and New Zealand) was introduced in 2009
  • Overall decrease in the rate of neural tube defects (NTDs) by 14.4%
  • Teenagers the rate of NTDs decreased by almost 55%
  • Aboriginal and Torres Strait Islander women the rate of NTDs decreased by 74%
Links: Folic Acid and Neural Tube Defects | Iodine Deficiency | Australian Statistics | AIHW - folic acid and iodine
Pertussis (whooping cough) Increase
NSW-pertussis-notification-graph 2012-16.jpg
There has been a recent significant increase in the total number of pertussis (whooping cough) notifications in NSW, Australia.

Pertussis (whooping cough, 100-day cough) is a highly contagious bacterial (Bordetella pertussis) infection prevented by vaccination with the pertussis vaccine. Symptoms are initially similar to the common cold. Neonatal infection can be fatal, with 1% of infected infants under one year of age dying, other complications include: pneumonia (lung infection), convulsions (violent, uncontrolled shaking), apnea (slowed or stopped breathing) and encephalopathy (disease of the brain). (More? Postnatal - Infectious Diseases School Exclusion | Neonatal Development | Abnormal Development - Bacterial Infection)


  • Edited news
  • updated Mothers and Babies 2015
Pituitary thyroid pathway.jpg

Association of maternal thyroid function during early pregnancy with offspring IQ and brain morphology in childhood[2]

  • Maternal levels of free T4 during pregnancy correlate with their offspring's IQ, cortex volume and grey matter volume
  • Both the upper and lower limits of normal maternal levels of free T4 during pregnancy are associated with reduced child IQ, as well as decreased child cortex and grey matter volume

• Maternal levels of TSH during pregnancy are not associated with child IQ or child brain morphology


  • Edited news
  • Updated textbook links
  • Updated to mothers and babies 2014


Mothers 2013  
  • Average maternal age in 2013 was 30.1 years, more than the earlier years (2011, 30.0 years; 2000, 29.0 years; 2002, 29.4 years).
  • Approximately 43.0% (2009, 41.6%) of women were having their first baby.
    • Average age for first time mothers was 28.6 (27.8 years in 2003).
  • mothers aged 35 and over has increased from 19% in 2003 to 22% in 2013, (mothers aged less than 24 has decreased from 19% to 17%).

  • ART was used by 3.8% (2009, 3.6%) of women who gave birth. (see also below Assisted Reproduction Technology)
  • 0.4% (1,267) of all women who gave planned home birth (2009, 0.3%, 863).

Smoking during pregnancy

  • Smoking while pregnant was reported by 12% of all mothers (2009, 14.5%).
  • More than one‐third (34%) of mothers under 20 smoked in the first 20 weeks of pregnancy
    • rate falls to 7% for mothers aged 35–39 but increases slightly to 8% for mothers 40 and over

Preterm Birth

Probably the most significant ongoing issue related to development, with both known and unknown contributors. Importantly, preterm infants also occupy the majority of special care units.
  • Australia - 8.3% of babies were born preterm (less than 37 weeks gestation) (2009, 8.2%; 2008, 7.4%).
    • NSW preterm birth was 7.5% (2010, 7.4%).
  • 0.7% post-term (42 weeks gestation or more) (2009, 0.9%).
  • Born Too Soon: The Global Action Report on Preterm Birth (2012) The first-ever country-by-country estimate of premature births finds that 15 million babies a year are born preterm - more than one in 10 live births. The report on preterm birth provides the first-ever national, regional and global estimates of preterm birth. The report shows the extent to which preterm birth is on the rise in most countries, and is now the second leading cause of death globally for children under five, after pneumonia. Preterm Birth
Links: Nursery beds
Preterm birth screening.jpg

Multiple pregnancy

Australian multiple birth data
  • The number of multiple births has increased in the last two decades.
  • 4,629 multiple pregnancies (1.6% of all mothers) (2009, 4,605; 2008, 4,634)
    • majority were twin pregnancies (2009, 4,521; 2008, 4,558) fewer triplet pregnancies and other higher-order (2009, 84; 2008, 76)

Presentation at birth

Breech presentation (Galletti, 1770)

2009 data

  • Cephalic (any part (vertex, face or brow) 94.4% (2008, 94.6%)
  • Vertex (crown (vertex) of the fetal head is the presenting part) (2009, 94.2%)
  • Breech presentation (buttocks or feet in labour) (2009, 3.9%; 2008, 4.0%)
    • 11,565 women with a breech presentation - 92.2% were singleton and 7.8% were multiple pregnancies.

Method of birth

2009 data

  • vaginal birth 201,631 women
  • 56.8% had a non-instrumental vaginal birth.
  • instrumental vaginal delivery 11.7%
  • caesarean sections 32.3% (2009, 92,687)
  • 31.5% nationally (2000 - 23.3%)
Birth caesarean.jpg

Birth caesarean

Australian caesarean and instrumental birth 2009.jpg

Caesarean and Instrument Delivery

Pre-existing and pregnancy-related medical conditions

  • The following conditions were also reported: epilepsy, diabetes mellitus and hypertension, antepartum haemorrhage, gestational diabetes, cord prolapse and retained placenta, pregnancy-induced hypertension, fetal distress in labour and post-partum haemorrhage rates
    • Note data is not standard across jurisdictions.


Postnatal length of stay 2009 data

  • median postnatal hospital stay for mothers was 3.0 days
  • 2.0 days non-instrumental vaginal birth
  • 3.0 days vacuum extraction delivery
  • 4.0 days caesarean section or forceps delivery
    • 5.4% caesarean section had a postnatal length of stay of 7+ days

Maternal death 2008–2012 data[3]

  • Maternal death in Australia is a rare event in the context of worldwide maternal deaths.
    • Aboriginal and Torres Strait Islander women is double that of other Australian women.
  • 105 maternal deaths in Australia that occurred within 42 days of the end of pregnancy, representing a maternal mortality ratio (MMR) of 7.1 deaths per 100,000 women who gave birth.
  • 49 maternal deaths directly related to the pregnancy.
    • 11 obstetric haemorrhage (5 due to pathological placentation, placenta accreta and/or percreta)
    • 10 thromboembolism
    • 9 hypertensive disorders


2009 data

  • 296,791 live births and 2,341 fetal deaths (2008 - 292,027 live births and 2,177 fetal deaths)
    • stillbirth rate of 7.5 per 1,000 births
  • most births occurred in October, September and July
  • 106 sex ratio, number of male per 100 female liveborn babies. (2008 - 105.6)

Gestational age

Special educational need by gestational age (UK data)[4]

2009 data

  • 90.8% term, 37–41 weeks gestation. (2008 - 90.9%)
  • 8.2% were preterm and 33.1 weeks was the mean gestational age for all preterm births
    • Preterm births were classified groups of 20–27 weeks, 28–31 weeks and 32–36 weeks



2009 data

  • 92% of liveborn babies had a birthweight in the range 2,500–4,499 grams
    • average birthweight was 3,374 grams
  • 18,347 (6.2%) low birthweight (weighing less than 2,500 grams) (2008 - 6.1%)
  • 3,017 (1.0%) very low birthweight (weighing less than 1,500 grams)
  • 1,357 (0.5%) extremely low birthweight (weighing less than 1,000 grams)

Apgar scores - 1.5% of liveborn babies had a low Apgar score (between 0 and 6) at 5 minutes (More? Apgar test)

Special care nurseries (SCN) or neonatal intensive care units (NICU) - 14.2% of liveborn babies admitted (2008 - 14.5%)

Perinatal mortality

Perinatal mortality rate NSW 1992-2002
  • Different definitions in Australia for reporting and registering perinatal deaths.
    • NPDC definition of perinatal deaths to include all fetal and neonatal deaths of at least 400 grams birthweight or at least 20 weeks gestation.
    • ABS definition of a perinatal death includes birthweight of at least 400 grams or, where birthweight is unknown, a gestational age of at least 20 weeks.
  • 2,341 fetal deaths, 7.8 per 1,000 births (2008 - 2,177)
  • 667 neonatal deaths (3.0 per 1,000 live births) (2008 - 846)
    • neonatal deaths are those occurring in live births up to 28 completed days after birth
  • 2,221 Australian perinatal deaths, 70.0% were fetal deaths (2008 - 3,024)
    • perinatal death includes birthweight of at least 400 grams or, where birthweight is unknown, a gestational age of at least 20 weeks
  • 31.2% congenital abnormalities (anomalies) (2008 - 23.5%)
  • 18.9% spontaneous preterm birth
Self-Directed Learning 1

  • Long-term glycemic control using polymer-encapsulated human stem cell-derived beta cells in immune-competent mice[5] "The transplantation of glucose-responsive, insulin-producing cells offers the potential for restoring glycemic control in individuals with diabetes. Pancreas transplantation and the infusion of cadaveric islets are currently implemented clinically, but these approaches are limited by the adverse effects of immunosuppressive therapy over the lifetime of the recipient and the limited supply of donor tissue. The latter concern may be addressed by recently described glucose-responsive mature beta cells that are derived from human embryonic stem cells (referred to as SC-β cells), which may represent an unlimited source of human cells for pancreas replacement therapy. ...human SC-β cells were encapsulated with alginate derivatives capable of mitigating foreign-body responses in vivo and implanted into the intraperitoneal space of C57BL/6J mice treated with streptozotocin, which is an animal model for chemically induced type 1 diabetes. These implants induced glycemic correction without any immunosuppression until their removal at 174 d after implantation. Human C-peptide concentrations and in vivo glucose responsiveness demonstrated therapeutically relevant glycemic control. Implants retrieved after 174 d contained viable insulin-producing cells."

eMed Link

Textbook Reading: Moore, K.L. & Persuad, T.V.N. (2008). The Developing Human: Clinically Oriented Embryology (8th ed.). Philadelphia: Saunders. Chapter 20 - Congenital Anatomic Anomalies or Human Birth Defects

Page History

Australia’s mothers and babies (2012) cover

Assisted Reproduction Technology

Assisted reproductive technology in Australia and New Zealand 2012

Assisted Reproduction Technology (ART) is also sometimes also used to identify In vitro fertilization (IVF) but now includes many new techniques.

Assisted reproductive technology in Australia and New Zealand 2012[6] Nov 2014

2012 ART treatment cycles

  • 70,082 assisted reproductive technology (ART) treatment cycles performed in Australia (64,905 ) and New Zealand (5,177),
  • 3,590 babies born (including 13,312 liveborn babies) following ART treatment in 2012.
  • an increase of 5.8% for Australia and a decrease of 0.2% for New Zealand on 2011.
  • 13.7 cycles per 1,000 women of reproductive age (15–44 years) in Australia
  • Women used their own oocytes or embryos (autologous) in 95.2% of treatments, and 34.8% of all cycles used frozen/thawed embryos.
  • 36,171 women who undertook 66,710 autologous fresh and/or thaw cycles in Australia and New Zealand in 2012.
  • average, 1.8 cycles per woman were undertaken in 2012, with more cycles per woman in Australia (1.9 cycles per woman) than in New Zealand (1.5 cycles per woman).
  • increase in cycles where preimplantation genetic diagnosis was performed, from 2.0% of cycles in 2011 to 3.7% of cycles in 2012.
  • Maternal Age
    • women aged under 30, the live delivery rate was 26.0% for both autologous fresh and thaw cycles.
    • women aged over 44, the live delivery rate was 0.9% and 4.6% for autologous fresh and thaw cycles respectively.

2011 Data

Assisted reproductive technology in Australia and New Zealand 2011.jpg

The following data from previous year

  • 66,347 treatment cycles undertaken in Australia and New Zealand.
  • 23.1% resulted in a clinical pregnancy and 17.5% in a live delivery (the birth of at least one liveborn baby).
  • 12,623 babies (including 12,443 liveborn) born following ART treatment.
  • decrease rate of multiple deliveries, 10.0% in 2007 to 6.9% in 2011.
    • shifting to single embryo transfer, with the proportion increasing from 63.7% in 2007 to 73.2% in 2011 (rates remained stable at about 23.0% per initiated cycle).
  • between 2009 and 2011 cumulative live delivery rate was 21.1% after the first cycle, increasing to 31.1% after two cycles, 36.0% after three cycles, 38.6% after four cycles, and 40.0% after five cycles.
  • cumulative live delivery rate did not increase markedly with additional treatments after five cycles.


  • 2007 289,496 women gave birth to 294,205 babies
  • 2008 292,156 women gave birth to 296,925 babies
    • 2007 increase of 4.3% from 2006, and 14.4% increase since 2004
  • fetal death component was 2,177 and 2,188 respectively
  • 29.9 years was the maternal mean age in 2007
  • the rate of women aged 15–44 years giving birth in the population decreased slightly between 2007 and 2008.
  • 41.6% of mothers had their first baby and 33.5% had their second baby
  • 10,883 women were Aboriginal or Torres Strait Islander (3.8% of all women who gave birth)
    • 39.5% of all mothers in the Northern Territory
    • 25.2 years was the average age of these women who gave birth
  • 3.1% women received ART treatment (see also below Assisted Reproduction Technology)

  • 2011 - Update Birth defects in Victoria 2005 to 2006$File/Birth_defects_in_Victoria_2005_to_2006.pdf

Top birth defects in Victoria - With a few exceptions, the majority of birth defects most commonly found in Victoria are not severe or life threatening to the child.

The incidence of the most common conditions in Victoria in 2005–2006 (in order of prevalence) was found to be:

  • Hypospadias – the urethral opening is located on the underside of the penis: one in 135 (male) births
  • Obstructive defects of the renal pelvis – abnormalities of the urinary tract: one in 250 births
  • Ventricular septal defect – a hole in the tissue that divides the two heart chambers: one in 311 births
  • Trisomy 21 – also known as Down’s syndrome, caused by an additional 21st chromosome: one in 339 births
  • Congenital dislocation of the hip – the ball of the thigh bone doesn’t fit snugly into the hip bone socket: one in 364 births
  • Trisomy 18 – also known as Edward syndrome, includes multiple abnormalities (including those of the heart, diaphragm, lung, kidneys, ureters and palate) caused by an additional 18th chromosome: one in 1,190 births
  • Hydrocephalus – a build-up of cerebrospinal fluid inside the skull: one in 1,235 births
  • Cleft palate – the roof of the mouth is split down the middle: one in 1,250 births
  • Renal agenesis and dysgenesis – one or both kidneys are missing (agenesis) or the kidney is malformed (dysgenesis): one in 1,515 births
  • Transposition of the great vessels – the two main arteries leaving the heart are reversed which changes the way blood circulates through the body, leaving a shortage of oxygen in blood flowing from the heart to the rest of the body: one in 1,587 births.
  • Neural tube defects

Neural tube defects, such as anencephaly and spina bifida, occur just outside the top 10 most common birth defects, but are widely known. Their prevalence has generally decreased since 1993, most likely due to an increased awareness by the public of their prevention and increased use of folic acid:

    • Spina bifida – malformations of the spinal column: one in 1,667 births
    • Anencephaly – the brain is partially or completely absent: one in 1,818 births.

ART 2007

ART types USA 1996

Single Embryo Transfers (SET)

  • Significant increase in the number of SET embryos transfer cycles (2002 28.4%, 2005 48.3%)
  • increase of SET cycles resulted more singleton deliveries (singleton deliveries 2005 was 85.9%)
  • single-embryo transfer babies had better outcomes compared to babies born to women who had a double-embryo transfer (DET).
    • 2005 3,681 SET babies and 5,589 DET babies.
  • Singletons babies - 96.1% SET, 61.6% DET
  • Preterm babies - 11.7% SET, 30.6% DET
  • Low birthweight liveborn babies - 8.0% SET, 25.0% DET

ART Perinatal mortality rate

  • perinatal mortality rate was 14.7 deaths per 1,000 births (2005)
    • 23.8% decrease from 19.3 deaths per 1,000 births in 2004
  • Perinatal mortality rate was the lowest among singletons born following SET (7.3 deaths per 1,000 births) in 2005.

(Reference: AIHW National Perinatal Statistics Unit Assisted Reproduction Technology in Australia and New Zealand 2005)

Tutorial Handout

    • Spiral-bound: 376 pages
    • Publisher: CRC Press (July 28, 1998)
    • Language: English
    • ISBN-10: 9057025450
    • ISBN-13: 978-9057025457


Activity URL Link

  1. AIHW 2016. Monitoring the health impacts of mandatory folic acid and iodine fortification 2016. Cat. no. PHE 208. Canberra: AIHW. PDF
  2. Korevaar TI, Muetzel R, Medici M, Chaker L, Jaddoe VW, de Rijke YB, Steegers EA, Visser TJ, White T, Tiemeier H & Peeters RP. (2016). Association of maternal thyroid function during early pregnancy with offspring IQ and brain morphology in childhood: a population-based prospective cohort study. Lancet Diabetes Endocrinol , 4, 35-43. PMID: 26497402 DOI.
  3. AIHW: Humphrey MD, Bonello MR, Chughtai A, Macaldowie A, Harris K & Chambers GM 2015. Maternal deaths in Australia 2008–2012. Maternal deaths series no. 5. Cat. no. PER 70. Canberra: AIHW.
  4. <pubmed>20543995</pubmed>| PLoS Medicine
  5. <pubmed>26808346</pubmed>
  6. Macaldowie A, Wang YA, Chughtai AA & Chambers GM 2014. Assisted reproductive technology in Australia and New Zealand 2012. Sydney: National Perinatal Epidemiology and Statistics Unit, the University of New South Wales. PDF