Maternal Screening

• Down syndrome: Down syndrome is a genetic disorder that causes variable degrees of intellectual incapacity. It may result in physical issues such as heart abnormalities or vision or ear disorders. Because the newborn has three copies of chromosome 21, instead of the typical two, Down syndrome is sometimes referred to as trisomy 21.
• Neural tube defects: During the second trimester MSS test looks for neural tube problems. The brain does not grow correctly because of anencephaly, and the newborn may seldom  survive. Spina bifida is a condition in which the joints and bones open up, causing damage to the central nervous system of the lower body.
• Edward syndrome is a genetic disorder that causes physical issues such as growth retardation, cardiac difficulties, digestive system anomalies, and cognitive incapacity. The prognosis for infants born with Edward syndrome is low. Many people do not survive through their first few weeks of life.

Is it compulsory to get a maternal serum marker screening?
 
All expectant mothers should be screened for Down syndrome as well as other chromosomal disorders. The decision to undergo testing, on the other hand, is a personal one. Every woman has a possibility of having a kid with Down syndrome or Edward syndrome; however, the likelihood rises  as the woman gets older.
 
Does it lose out on the possibility of syndromes?
 
A low-chance maternal serum screening test does not rule out the possibility of a genetic disease in the fetus. It denotes a low probability. On the other hand, a higher probability outcome does not always imply that the kid has a genetic disease. The majority of women who have a higher probability of having a baby with Down syndrome, Edward disorder, or a neural tube abnormality would not have a kid with these conditions.
 
Amniocentesis

• Testing of the fetal lungs: Collecting a specimen of amniotic fluid and analysing it to see if a baby's lungs are developed enough yet for delivery is known as fetal lung maturity testing.
• Fetal infection diagnosis: Amniocentesis is a procedure to check for infection or another sickness in a newborn. The method can also be used to assess the degree of anemia in newborns with Rh sensitisation, a rare illness in which the mother's immune response develops antibodies targeting a protein on the baby's blood cells.
• Testing for paternity: Amniocentesis is a procedure that collects DNA from the fetus and compares it to DNA from the putative father.
• Genetic testing: Genetic testing is a method of determining a person' A specimen of amniotic fluid is taken and tested for specific diseases, such as Down syndrome, during genetic amniocentesis.

 
How do you get ready for an amniocentesis?
 
If you're undergoing amniocentesis before the 20th week of pregnancy, keeping your bladder full may assist support the uterus throughout the process. Before your appointment, drink lots of water. To reduce the risk of a puncture during amniocentesis, your bladder must be emptied.
 
Before the operation begins, any health care professional will describe the process to you and  request you to sign a permission form. Consider having somebody accompany you to the consultation or drive you home later for comfort and support.
 
Anomaly scan

The 20th week is crucial for both the mother and the baby; hence, parents are asked to not skip the abnormality scan. An anomaly scan, sometimes referred to as mid-pregnancy imaging, is an ultrasound examination of the embryo and the uterus given between the 18th and 21st weeks of pregnancy in greater detail to determine where the placenta is located.
 
This examination is used to look for any physical problems in your baby. The scan can be used as a dating ultrasound, wherein a black and white 2-dimensional (2-D) picture of the baby in the womb is acquired. At 20 weeks, this picture reveals the baby's hands and face, giving the medical provider an understanding of what is going on from the inside.
 
What does an anomaly scan detect?

• Anencephaly: This is a condition in which the brain and cranium bones grow abnormally. Unfortunately, kids born with this condition are unable to live and die shortly after delivery.
• Cleft lip and palate: When some portions of the baby's face, notably the lips, do not link together properly, this occurs.
• Gastroschisis: A flaw or "hole" in the abdominal lining of the newborn solely on a single side of the umbilical cord. A few of the bowels escape and expand outside of the baby's belly via this opening.
• Spina Bifida is a kind of spina bifida that is open. When the baby's spinal cord does not grow properly, there is a split or divide in the spine known as Spina Bifida.
• Skeletal Dysplasia is a fatal disease. This is a condition that affects the size and form of the limbs, legs, torso, and even the head. These newborns' chests and lungs aren't fully developed, which means they won't be able to breathe.