From Down Syndrome to diseases of the heart, lungs and kidneys:
It is without a doubt that the biggest wish of every parent is for their newborns to be healthy when they hold them for the first time, but sometimes things simply not go as planned. Any problem that may appear has the potential to replace joy and excitement with sadness and worry in an instant. Fortunately, the quick developments in technology and medicine come to the parents’ rescue in such a case. It is now possible to diagnose a disease that the baby may develop in the womb at an early stage with comprehensive screening and monitoring programs and take all actions that are necessary for the baby to recover her health. Associate Professor Hülya Dede, who is an obstetrician/gynecologist and perinatologist at Acıbadem Maslak Hospital, says “The possibility of abnormalities during pregnancy is between 3 and 5%. We follow an intensive screening and monitoring schedule in order to detect any anomaly that may develop in the baby during pregnancy. New screening methods include use of new generation ultrasound devices with high screen resolution and acquisition of a DNA sample of the baby from the womb”. Associate Professor Hülya Dede points out the fact that the method of collecting a sample of the baby’s DNA from the womb, which has started to be used only recently, can be applied after the 8th week of pregnancy and says, “A sufficient sample of the baby’s DNA can be acquired from a very little amount of blood collected from the mother and this sample can be used to predict Down Syndrome with an accuracy rate of 99%”. In this article, Associate Professor Dede shares with us information on the conditions that can be identified while the baby is still in the womb and gives important warnings and advice on the subject.
- Kidney diseases
Kidney anomalies can be detected during fetal anomaly screening. There are many kidney anomalies, ranging from absence of kidneys to abnormal kidney position. While most of the common kidney anomalies are not life-threatening, they can lead to kidney diseases in later years. Currently, it is possible to treat many kidney anomalies.
- Lung diseases
Babies may develop many congenital lung diseases while still in the womb. For instance, a baby may be born with cysts in the lungs, lungs that are not fully developed or an abnormal connection between the esophagus and trachea. Such diseases do not show any indications in the mother but can still be diagnosed with a meticulous ultrasound examination. Their treatment can be performed after birth.
- Heart diseases
The 20th gestational week is important in the development of a baby. Therefore, the period between the 19th and 22nd gestational week is ideal to perform fetal anomaly screening for heart diseases. There are many genetic and environmental risk factors for cardiac anomalies. These anomalies can arise from many causes, ranging from diabetic mothers or mothers who have illnesses such as rubella and mumps to use of risky medications during pregnancy. Tetralogy of fallot (blue baby syndrome), transposition of the great vessels, large holes in the heart, dexto-transposition of the great arteries or underdevelopment of one side of the heart due to severe narrowness of certain regions are among the most common heart anomalies. Currently, it is possible for many cardiac anomalies to be diagnosed during pregnancy.
- Hare-Lip (Cleft Lip – Cleft Palate)
Cleft lip and palate anomalies, which are colloquially referred to as “hare-lips”, are encountered in one in every thousand babies. The reason behind these are not exactly known. The medications used by the mother during pregnancy, x-rays, consanguineous marriages, substance abuse and certain traumas the mother goes through during pregnancy can lead to this condition. Cleft lips and palates can be repaired after birth in two operations by plastic surgeons; while cleft lip operations are performed during the initial months following birth, cleft palate operations are carried out before the baby is one-year old.
- Dwarfism and club feet
Problems such as joined fingers, extra or missing fingers and too short or too long limbs can be detected while the baby is still in the womb and eliminated with small operations and prostheses that continue to be improved with each passing day. Hip dysplasia, club feet, wry neck, dwarfism and serious developmental disorders in the limbs or spine are, on the other hand, among much more important skeletal abnormalities.
- Skeletal abnormalities
Abnormalities that develop in the skeletal structure of babies during pregnancy can be diagnosed easily during fetal anomaly screening but most of the time, the reason behind these cannot be identified. It is assumed that vitamin deficiency in the mother is among the biggest factors. Skeletal anomalies can arise from smoking, drinking and substance abuse in some cases and simply genetic reasons in others. In these cases, it is necessary for the family to be informed by their doctor and appropriate measures to be taken.
- Head and brain anomalies
Head and brain anomalies are among those which are most common and can be diagnosed very early through ultrasound scans. Underdevelopment of the skull, brain tissue left exposed outside of the skull, missing elements in brain tissue, overexpansion of fluid-filled sacs and underdevelopment of brain tissue are among the most frequently diagnosed anomalies. Since a large portion of such anomalies are not compatible with life, the baby is lost after a short while from birth. In such cases, the path to be taken is determined in accordance with the state and severity of the condition, the preferences of the family and professional principles and ethics.
- Anterior abdominal wall anomalies
Some of the defects in the abdominal wall can be treated via surgery after the baby is born. Herniation of intestines and/or other abdominal organs (and, sometimes, even the heart) through the belly button or protruding of the intestine and, in some cases, the liver outside of the body due to a defect in the abdominal wall are among the most common abdominal anomalies.
- Neural Tube Defects
These are conditions which occur when an opening in the neural tube, which consists of the brain and the spinal cord, does not close. Most babies with neural tube defects do not survive and those who do are either paralyzed or they lack important functions such as bladder and bowel control. Since the most distinctive reason for these is deficiency of the vitamin referred to as folic acid in the mother, it is important for mothers to take folic acid before and after pregnancy while under supervision.
- Down Syndrome
Associate Professor Hülya Dede says, “Down Syndrome, which is a genetic difference rather than a disease, can be detected at an early stage. The risk can be identified through determination of the nuchal thickness and evaluation of the nasal bone via ultrasound examinations between the 11th and 14th weeks, which are followed by assessments related to a few parameters in the mother’s blood. The possibility of Down Syndrome can also be determined in consideration of the ultrasound findings in the 4th month, as well as certain hormonal parameters associated with the mother’s blood, the mother’s age, whether or not the mother is smoking, and history of certain diseases. We can support this method with the addition of certain ultrasound markers”.
A new method in diagnosis of Down Syndrome
When examinations indicate that the possibility of Down Syndrome is higher than expected, certain diagnosis tests come up. Depending on the gestational week, some chromosome analyses are carried out after a sample is acquired from the fluid in which the baby is present (amniocentesis) or the placenta with a needle. These analyses yield results at a rate of 99% for the presence of Down Syndrome. However, the possibility of certain complications such as premature birth, water breaking, bleeding and miscarriage, which is very low, cause expectant mothers to hesitate. A recently developed technology has brought a solution to this issue. Associate Professor Hülya Dede says, “It is now possible to identify the genetic structure of the baby (whether she has Down Syndrome or not) by reproducing and analyzing the particles of the baby’s DNA, which circulate freely in the mother’s blood. Since these tests do not have 100% accuracy rate yet, they are not able to replace amniocentesis for determination of Down Syndrome presence; nevertheless, their accuracy is not less than 99%”.