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Approximately 3% of all babies (about 1 in 33) are born with an identifiable birth defect (Pre-Implantation Genetic Testing for Birth Defects). Birth defects (congenital disorders) are structural or genetic conditions present at birth that can affect almost any part of the body. Below is an overview of 10 common birth defects that prospective parents – especially those considering IVF and preimplantation genetic testing (PGT) – should know about. Understanding these conditions and your family’s genetic risk factors can help you make informed reproductive decisions.

Common Types of Birth Defects

1. Congenital Heart Defects (CHDs) – The most common birth defects, CHDs are structural problems of the heart (such as holes in the heart or malformed valves) that affect how the heart works. Their severity ranges from mild (resolving on their own) to critical defects requiring surgery early in life.
2. Neural Tube Defects (NTDs) – A group of serious defects of the brain and spinal cord that occur when the neural tube (brain and spinal cord) fails to close properly in very early pregnancy. Examples include anencephaly (incomplete brain development) and certain spinal malformations. Although taking folic acid before and during early pregnancy significantly lowers the risk of NTDs,  some still occur without a known cause.
3. Cleft Lip and Palate – An orofacial cleft in which a baby’s upper lip or the roof of the mouth (palate) does not fully fuse early in development. This can result in a gap (cleft) in the lip and/or the palate. Cleft lip/palate can cause feeding, dental and speech difficulties, but they are correctable with surgical procedures in infancy and early childhood.
4. Clubfoot – A musculoskeletal defect where one or both feet are rotated inward and downward. The affected foot appears twisted, due to shortened tendons. Clubfoot is fairly common and is usually apparent at birth. Early treatment with physical therapy , casting or bracing (and sometimes surgery) can successfully correct this condition, allowing normal walking and movement.
5. Down Syndrome (Trisomy 21) – A condition caused by an extra copy of chromosome 21 present from conception. Down syndrome is the most common chromosomal birth defect. The presence of the extra chromosome leads to characteristic facial features, learning and developmental delays, and occasionally  congenital heart or gastrointestinal defects. Supportive care, early intervention, and education can help children with Down syndrome lead healthy, fulfilling lives.
6. Spina Bifida – A specific type of neural tube defect in which the spinal column does not close completely around the spinal cord. This can result in nerve damage and varying degrees of paralysis or mobility issues. Spina bifida can range from mild (occult) forms with virtually no symptoms to severe forms where spinal nerves protrude affecting their function. Prenatal folate intake lowers the risk, and modern surgical interventions (sometimes even before birth) can improve outcomes.
7. Limb Abnormalities – These include a range of congenital limb differences, such as missing or underdeveloped arms, legs, fingers, or toes. Limb abnormalities occur when a portion of a limb doesn’t form correctly. For example, a baby might be born with a partially formed arm or a missing hand. Treatment depends on severity – it may involve prosthetics, orthopedic surgery, or physical therapy to help the child adapt and develop mobility.
8. Congenital Diaphragmatic Hernia (CDH) – A defect in the diaphragm (the muscle separating the chest from the abdomen) that allows organs like the stomach or liver to move into the chest cavity. CDH can crowd the developing lungs, leading to serious breathing difficulties at birth. This condition is often  detected on prenatal ultrasounds. Babies with CDH often require specialized care (occasionally before birth) and surgery soon after birth to repair the diaphragm and support breathing.‍
9. Microcephaly – A neurological birth defect where a baby’s head and brain are significantly smaller than expected, often due to abnormal brain development. Microcephaly can occur from genetic causes or prenatal exposures (such as infections or Zika virus). Children with microcephaly may face developmental delays or neurological problems. Early interventions like physical and speech therapy can help maximize a child’s capabilities.‍
10. Hypospadias – A common birth defect in boys where the opening of the urethra of the penis (through which urine exits) is located on the underside of the penis instead of at the tip. Depending on the position of the opening, hypospadias can affect urination and, later, fertility. It is usually corrected with surgery during infancy for normal function and appearance.

The Role of Genetic Screening in Prevention and Planning

While not all birth defects are preventable, knowledge is power. Many birth defects have complex causes – a mix of genetics, environmental factors, and random developmental events. However, modern reproductive genetics now gives prospective parents tools to understand and reduce certain inherited risks before pregnancy. Whole-genome preimplantation genetic testing (such as Orchid’s embryo screening) can analyze embryos created via IVF for genetic abnormalities. For example, Orchid’s comprehensive embryo genome sequencing can screen embryos for hundreds of genetic variants associated with birth defects (Your Guide to Genetic Testing for Embryos). This advanced insight empowers patients to make informed decisions before a pregnancy even begins (Pre-Implantation Genetic Testing for Birth Defects) – such as selecting an embryo without a particular genetic issue or planning for specialized care if certain risks are detected.

In summary, prospective parents should become familiar  with these common birth defects and consider discussing genetic screening options with their healthcare providers. Understanding your genetic risk factors through resources like Orchid’s official guides can help you feel more prepared and proactive.