Diagnoses

What is Down Syndrome or Trisomy 21?

Down syndrome is a condition that is physically characterised by features such as a flatter face and wider neck than usual, small ears and upward slanting eyes. As a baby, they often have low muscle tone, and can seem floppy. Individuals with Down syndrome have an extra copy of the chromosome number 21 (3 copies instead of the usual 2 copies). Down syndrome is present in 1 in every 1000 births. The risk of Down syndrome can be detected at the combined first trimester screening with Nuchal Translucency scan, or non-invasive prenatal testing (NIPT). Tests such as amniocentesis and CVS confirm the diagnosis. There can be physical problems associated with the condition, involving the digestive system, heart and overall development. Intellectual disability is a feature of Down Syndrome, but the severity varies between individuals. There is currently no treatment available for the condition, but associated problems can be managed. Interventions can also be helpful in maximising learning and social potential. No two people with Down Syndrome are alike, and there is no way of predicting the level of impairment a baby with Down Syndrome will go on to experience. The degree of support that an individual with Down Syndrome will need to live an independent life will vary from very little, to complete dependence. Further information about Down Syndrome can be accessed at Down Syndrome Australia (https://www.downsyndrome.org.au/index.html). Online support forums for parents of children with Down Syndrome can also be helpful in understanding the varied lived experiences of individuals with Down Syndrome, such as Josee's Journey of Faith Hope & Love (https://www.facebook.com/JoseeFaithHopeLove/).

​

What is Edwards Syndrome or Trisomy 18?

Edwards syndrome is a chromosomal abnormality, where an extra copy of chromosome 18 is present. There are three types of Edwards Syndrome: Complete Trisomy 18 (there are 3 copies of chromosome 18), Mosaic Trisomy 18 (there is a mixture of 3 and 2 copies of chromosome 18), and Partial Trisomy 18 (there is an extra part of chromosome 18 in all cells). Edwards syndrome is present in 3 in every 10 000 births. The risk of T18 can be detected by combined first trimester screening with Nuchal Translucency scan, or non-invasive prenatal testing (NIPT). Tests such as amniocentesis and CVS confirm diagnosis. There is unfortunately currently no treatment available for the condition. The outlook for your baby depends on the type of T18 (see above):

• Complete - Babies with complete T18 usually do not survive pregnancy or pass away soon after birth.
• Mosaic and Partial - Babies with Mosaic or Partial T18 can live beyond a year but this is rare.
  

There is no way to predict the severity of these abnormalities prior to birth, but if the baby does survive, management of infections, abnormalities and feeding can keep the baby as comfortable as possible.

What is Patau Syndrome or Trisomy 13?

Patau syndrome is a chromosomal abnormality where there is an extra copy of the chromosome 13 present. There are three types of Patau Syndrome: Complete Trisomy 13 (there are 3 copies of chromosome 13), Mosaic Trisomy 13 (there is a mixture of 3 and 2 copies of chromosome 13), and Partial Trisomy 13 (there is an extra part of chromosome 13 in all cells). Patau syndrome is present in 2 in every 10 000 births. The risk of Patau syndrome is detected at the combined first trimester screening with Nuchal Translucency scan, or non-invasive prenatal testing (NIPT). Diagnosis is confirmed via amniocentesis or Chorionic Villus Sampling (CVS). Unfortunately, there is currently no treatment for Patau Syndrome. The outlook for babies with Patau Syndrome depends on the type (see above):

• Complete - Babies with complete T13 usually do not survive pregnancy or pass away soon after birth.
• Mosaic and Partial - Babies with Mosaic or Partial Patau Syndrome can survive to adulthood but this is rare. Problems associated with Trisomy 13 include: major brain abnormalities, cleft lip/palate, heart problems, partially developed eyes and ears, and difficulties with their arms and legs.
  

Unfortunately, there is no way to predict the severity of these abnormalities prior to birth.

What is Alobar Holoprosencephaly (HPE)?

In HPE, the front part of the brain does not successfully separate during development in to left and right halves. HPE is usually detected at the fetal anomaly scan (occasionally it can be seen on the 12-week scan but not before). HPE is present in 1 of 7500 births. The cause of HPE is unknown. HPE can involve excess fluid in the brain, problems with organs, smaller head, cleft lip, and epilepsy. Unfortunately, problems can be severe, and brain function can be severely impacted. Unfortunately, there is currently no treatment for this condition. Sadly, of the babies with HPE, only 3% survive to birth. If this happens the baby is unfortunately very unlikely to survive past 6 months of age.

What is Anencephaly?

Anencephaly is a neural tube defect, which describes when the brain or spinal cord do not develop properly. As the skull does not develop properly, this can lead to damage to the baby’s brain. Anencephaly is present in 6 of every 10 000 births. Anencephaly is detected at the first trimester scan, or fetal anomaly scan. A second scan may be needed to confirm diagnosis. There is currently no treatment for this condition. Sadly, babies with Anencephaly do not survive pregnancy or pass away very soon after birth. In rare cases, the baby may live for a few days.

What is open spina bifida?

Open Spina Bifida is a neural tube defect, which describes when the brain or spinal cord do not develop properly. As the baby’s brain and the spinal column do not develop properly, there is an opening in the baby’s spine where spinal fluid escapes. Additionally, 70% of babies with this condition also present with hydrocephalus (this refers to excess cerebrospinal fluid in the brain). Open spina bifida is present in 6 of every 10 000 births. This condition is detected at the fetal anomaly scan. A second scan may be needed to confirm diagnosis. Treatment can involve surgery after birth, but this depends on the location and severity of the hole. If hydrocephalus is also present, then surgery to reduce the fluid in the brain could be necessary. Mild cases can be absent of major problems. Problems associated with this condition can include difficulty controlling the bowels and bladder, and difficulty walking. Hydrocephalus can lead to learning difficulties.

What is cleft lip?

Cleft lip refers to a split in the lip resulting from the parts of the face not joining together during development. Parts of the roof of the mouth can also not join together properly and this is called a cleft palate. Children can have one of these, or both. There is often no family history, and the cause of Cleft Lip/Palate is unknown. Cleft lip is present in 10 of every 10 000 births. Cleft lip can sometimes be detected on the fetal anomaly scan. However, Cleft Palate often goes undetected until birth. Surgery is necessary in cases of Cleft Lip. Surgery usually occurs in the first 6 months after birth to repair the split. As the child grows, further surgeries may be needed. Some babies can have problems with feeding due to the cleft, but this often improves after surgery.

What is Congenital diaphragamtaic hernia (CDH)?

In CDH the baby’s diaphragm does not develop properly. Sometimes the baby’s organs can shift through a hole in the diaphragm and occupies the space that lungs need to grow into. Consequently, the lungs can fail to develop properly. CDH is present in 4 of every 10 000 births. It can be detected on the fetal anomaly scan, at a later scan, or after birth. Treatment for this CDH involves immediate medical attention post-birth. Breathing equipment will likely be used to help the baby breath while his or her lungs become stronger. Surgery can repair the hole in the diaphragm if the baby is suitable for surgery. The outlook for this condition is that 5 in 10 babies with CDH survive. This depends on how big and strong the lungs have become. In 1 in 10 babies with CDH, they will also have heart or chromosomal abnormalities.

What is Gastroschisis?

In Gastroschisis the baby’s abdomen doesn’t develop properly. Due to a hole in the abdominal wall, the baby’s intestines can grow through the hole. Gastroschisis is present in 5 of every 10 000 births. Gastroschisis is detected on the fetal anomaly scan (occasionally it can be seen on the 12-week scan but not before). Further scans may be needed to confirm diagnosis. Babies with this condition can often be born prematurely. Unfortunately, 100% of babies with this condition need surgery. However, 90% of babies with this condition make a full recovery after surgery. Digestion of milk can be difficult for the first 2-4 weeks after surgery, but this can be managed and will settle.

What is Exomphalos?

In Exomphalos, the baby’s abdomen doesn’t develop properly. The abdominal wall does not successfully join together at the place of the umbilical cord. Through this hole, intestines (and sometimes other organs) can develop outside of the abdomen. Exomphalos is present in 4 of every 10 000 births. Exomphalos is detected at the fetal anomaly scan (occasionally it can be seen on the 12-week scan but not before). A second scan will be needed to confirm diagnosis. Unfortunately, 100% of babies born with this condition require a surgery. Additionally, 80% of babies with this condition also have chromosomal or heart abnormalities. Outlook for a baby with Exomphalos can vary. If the baby only presents with Exomphalos then there is 90% chance of survival following surgery. If the baby has additional chromosomal or heart abnormalities, it’s possible that survival rate can be 10% (depending on the severity of the additional abnormalities).

What is congenital heart disease?

Congenital Heart Disease describes abnormalities of the heart. There are three types: structural abnormalities, functional abnormalities, and problems with the rhythm of the heart. These abnormalities all vary in complexity and severity. Congenital heart disease is present in 35 of every 10 000 births. Congenitial Heart Disease is often detected at the fetal anomaly scan (occasionally it can be seen on the 12-week scan). A second scan is usually needed to confirm diagnosis. However, sometimes it is not picked up before birth. If Congenital Heart Disease is detected, then a referral is made to a specialist. Options for treatment vary in availability and type.

What is bilateral renal agenesis?

Bilateral Renal Agenesis means that the baby does not have kidneys. The baby’s kidneys help to create amniotic fluid (the fluid around the baby in the womb). Due to little or no amniotic fluid, the baby’s lungs will not develop properly. Bilateral renal agenesis is present in 1 of every 10 000 births. This condition is detected at the fetal anomaly scan. The ultrasound shows limited or absent amniotic fluid, and poorly formed or absent kidneys or lungs. Unfortunately, there is currently no treatment for this condition. Sadly, a baby with Bilateral Renal Agenesis cannot live without kidneys or adequate lung function. For this reason, the baby will not survive until birth, or pass away during birth, or very soon after birth.

What is lethal skeletal dysplasia?

Lethal Skeletal Dysplasia describes bone abnormalities in the skull, chest or limbs. Severe abnormalities in the chest can limit organ development. Lethal skeletal dysplasia is present in 1 of every 10 000 births. This condition is detected at the fetal anomaly scan. Further scans may be needed to confirm the diagnosis. Unfortunately, there is currently no treatment for this condition. Sadly, due to bone abnormalities limiting organ development, babies do not survive pregnancy or birth.