A Basic Intro to Prenatal Testing for Expecting Mothers

Did you know that about 1 in every 33 newborns in the U.S. have a congenital disability? While you can take steps to minimize the chances of having a baby with congenital disabilities, you can't prevent them. However, things like taking folic acid, and avoiding alcohol and drugs can help.

Today, doctors can detect some problems before the infant is born. Regardless of whether the carrying women are going through an unplanned pregnancy or a planned one, they should consider the options before them, one of which is prenatal testing.

Types of Prenatal Testing: Screening

Prenatal testing can be divided into two main categories, screening and diagnostic. The former cannot give an absolute result; it can only identify the chances of having a particular congenital disability.

It can be further subdivided into three groups, first-trimester screening tests, second-trimester screening tests, and cell-free DNA screening.

Genetic Testing During Pregnancy: First Trimester

The first generally occurs between the eleventh and fourteenth weeks of pregnancy. It involves a blood test and an ultrasound and gauges the possibility of certain chromosomal conditions.

It specifically tests the risk of Down syndrome and Edward's syndrome, or Trisomy 18 (extra chromosome 18s).

Second Trimester

The second-trimester screening consists of more blood tests that measure the levels of estriol, inhibin, alpha-fetoprotein, and human chorionic gonadotropin hormone in the bloodstream.

These may also provide information about the likelihood of certain genetic disorders and issues, including the two previously mentioned and neural tube defects.

Cell-Free DNA screening

The final kind of prenatal screening checks the fetus for sex, chromosomal abnormalities, and Rh blood type by extracting maternal and fetal DNA from the mother's blood.

Other imagery tests such as echocardiograms may also be used to assess the possibility of heart defects.

Genetic Testing: Pregnancy Over 35

Diagnostic tests, as may be inferred from their name, give an actual diagnosis. Medical professionals may suggest them if screening uncovers concerning signs or another reason to believe there is a high risk of the infant having a condition (parents are carriers of a genetic disorder, the mother is 35 or older, or a previous child was born with one).

These are considerably more invasive than screening.

The two most common ones are amniocentesis (a piece of the amniotic fluid around the baby is extracted from the uterus using a needle inserted through it and the abdomen) and chorionic villus sampling, or CVS (removal of a piece of placenta tissue from the uterus either similarly by a long needle through the abdomen or with a catheter through the vagina and cervix).

Potential Risks of Prenatal Testing

With invasive assessments, there are physical risks. There may be soreness and cramping. There is also a slight possibility of miscarriage.

The main dangers associated with prenatal testing are not physical. Finding out about a disorder may put the parents in the position of having to make painful decisions. This can cause stress, anxiety, anger, depression, and guilt.

It can also create tension among family members, particularly if it reveals a previously unknown genetic condition.

Prenatal testing is voluntary. While it can help expecting parents to prepare and make important choices, it is not without risks.

What types of prenatal testing did you have done?