Pregnancy and Down Syndrome
Down syndrome is a genetic condition that occurs when an individual has an extra copy of chromosome 21. This extra chromosome can cause a range of physical and developmental challenges.
Signs of Down Syndrome During Pregnancy
1. Advanced Maternal Age:
– Women over 35 have a higher risk of having a child with Down syndrome.
2. Abnormal Blood Tests:
– Specific blood tests, such as the quad screen and cell-free DNA (cfDNA) tests, can screen for Down syndrome, but they are not definitive.
3. Increased Nuchal Translucency:
– An ultrasound test can measure the fluid-filled space at the back of a baby’s neck, which may be thicker in babies with Down syndrome.
4. Enlarged Nasal Bone:
– An ultrasound may show a shortened or absent nasal bone in babies with Down syndrome.
5. Ventricular Septal Defect (VSD):
– A heart defect where there is a hole in the wall separating the heart’s ventricles is common in babies with Down syndrome.
6. Hypoplastic Left Heart Syndrome (HLHS):
– A severe heart defect where the left side of the heart is underdeveloped may be present in babies with Down syndrome.
7. Echogenic Intracardiac Focus:
– Small bright spots within the heart, visible on an ultrasound, can be a sign of Down syndrome.
8. Single Umbilical Artery:
– Most babies have two umbilical arteries connecting them to the placenta. In babies with Down syndrome, there may be only one artery.
9. Short Femur Length:
– An ultrasound can measure the length of the baby’s thigh bone, which may be shorter in babies with Down syndrome.
10. Polyhydramnios:
– An excess of amniotic fluid surrounding the baby in the uterus is associated with Down syndrome.
11. Cystic Hygroma:
– A fluid-filled sac on the back of the baby’s neck can be a sign of Down syndrome.
12. Dandy-Walker Malformation:
– A brain abnormality where the cerebellum and brainstem are malformed may be present in babies with Down syndrome.
13. Microcephaly:
– A smaller-than-average head size may be a sign of Down syndrome.
14. Renal Pyelectasis:
– Swelling of the renal pelvis (part of the kidney) may be seen in babies with Down syndrome.
15. Hypospadias:
– A birth defect where the urethral opening is located on the underside of the penis in males is associated with Down syndrome.
16. Cleft Lip and/or Cleft Palate:
– Birth defects involving the lip and/or palate may be present in babies with Down syndrome.
17. Duane Syndrome:
– An eye movement disorder where the eyes cannot move inward or outward is associated with Down syndrome.
18. Brachycephaly:
– A head that is shorter and wider than normal may be a sign of Down syndrome.
19. Hypoplasia of the Cerebellum:
– Underdevelopment of the cerebellum, a brain structure responsible for coordination and balance, may be present in babies with Down syndrome.
20. Retinoblastoma:
– An eye cancer is more common in children with Down syndrome.
Additional Considerations
It’s important to note that not all babies with Down syndrome will exhibit all of these signs. Additionally, some of these signs can be present in babies without Down syndrome.
Diagnosis and Management
A definitive diagnosis of Down syndrome can be made through prenatal testing, such as amniocentesis or chorionic villus sampling (CVS).
Once a diagnosis is confirmed, expectant parents will work with their healthcare providers to develop a care plan for their baby. This may include additional prenatal monitoring, specialized care at birth, and early intervention services to support the child’s development.
