Genetic Testing and Screenings

The Newest in Genetic Tests: What is cfDNA Testing? A new test, called cell free fetal DNA testing (cfDNA), is one of the first non-invasive screening test options that can help determine the likelihood of a fetus having a chromosomal disorder, ...

An ultrasound scan, known as the nuchal translucency screening, is done between 11 and 14 weeks of pregnancy and is used to help assess your baby's risk of Down syndrome. During this test, the sonographer measures the depth of fluid under the ski...

There are two ways of doing chorionic villus sampling. In the transabdominal method, a fine needle is placed through the abdomen to collect placental fragments. In the transcervical procedure, a thin tube (catheter) is inserted into the cervix. T...

In addition to Down syndrome, screening tests also assess the risk of another chromosomal abnormality called trisomy 18. Babies with this condition have more severe mental and physical abnormalities than babies with Down syndrome and seldom survi...

Your baby todayIn this image a hand is held up to the forehead and, to the right, part of a foot can be seen. The groove between the nose and the upper lip is visible and the nose has the characteristic "button" shape. It looks cramped in there b...

Your baby todayThis baby's back is turned and she's facing away from the ultrasound scanner. The skin is much less transparent than before since your baby is constantly laying down fat reserves beneath it. This fat accounts, in part, for much of ...

Your baby todayThis scan shows a cross section of your baby's brain, with the two hemispheres clearly seen. From this point on, your baby's brain measurement from one side to the other, taken just above the ear, is used as a reliable indicator of...

Your baby todayThe umbilical cord gradually becomes more coiled as the pregnancy progresses-as seen here on the left of the image. This coiling is thought to occur because of the many movements the embryo makes. ...

Your baby todayThe umbilical cord widens where it enters the baby's abdomen. This bulge is necessary to accommodate the bowel that is forming underneath at this stage of development. The bones of the head are not yet fully formed. ...

Your baby todayThe baby now begins to bend her wrists. The natural position is for the limbs to be slightly bent at all joints, especially in the early stages. There is a more distinct neck area as the baby's head is now slightly lifted off the c...

What's happening insideIn your partner's body, sperm is constantly being produced. Here the sperm cells can be seen: they consist of a head, which contains the genetic material, and fertilizes the egg, and a tail, which propels the sperm along. ...

Worrying About Birth Defects All pregnant women worry about bearing a child with a birth defect, but some women have more reason to worry than others. If you are over age 35, have a history of bearing a child or children with a birth defect, or...

What Is Chorionic Villus Sampling? Baby Talk Chorionic villus sampling (CVS) is a diagnostic test that can be given as early as the 9th week of pregnancy to identify or rule out certain birth defects. Chorionic villus sampling (CVS) is a diagnos...

What Is Amniocentesis? Baby Talk Amniocentesis is a diagnostic test that withdraws fluid from the sac surrounding the fetus to diagnose a number of birth defects. Amniocentesis is a procedure used to withdraw a small amount of amniotic fluid (th...