Malformed in the womb
Birth defects are a widespread health issue. The defects happen while a baby is developing in the mother’s womb. Congenital anomalies change the shape or function of one or more parts of the body. They also can affect the overall health of a child. According to “March of Dimes Global Report on Birth Defects, every year an estimated 8 million children (6 per cent of total births worldwide) are born with a serious birth defect of genetic or partially genetic origin. At least 3.3 million children below 5 years old die annually because of serious birth defects and the majority of those who survive may be mentally and physically disabled for life. Eminent fertility specialist and gynaecologist Dr. N. P. Vijayalakshmy looks at the reasons behind birth disorders and possible remedies
Incidence: Congenital anomalies affect an estimated 8 million children worldwide and at least 3.3 million children less than 5 years of age die annually because of serious birth defects and the majority of those who survive may be mentally and physically disabled for life, says a report in March of Dimes Global Report on Birth Defects.
Common defects: Birth defects are of different types. Some examples are orofacial defects, muscular skeletal malformations, central nervous system defects, heart defects, cardiovascular malformations, genitourinary malformations, limb defects etc. Birth defects of the central nervous system are called neural tube defects. This includes conditions called anencephaly, hydrocephalus, macrocephaly and spina bifida. Anencephaly happens if a baby is being born without forebrain and cerebrum. Almost all babies born with anencephaly will die shortly after birth. Spina bifida is a fault in the development of the spine and spinal cord which leaves a gap in the spine. Spina bifida might cause physical and intellectual disabilities that range from mild to severe form. Cerebral palsy results from brain injury during a baby’s development in the womb. Infections, birth injuries and poor oxygen supply to the brain before, during and immediately after birth, are common factors that can affect a baby’s normal development. Cleft lip and palate is an orofacial defect where baby’s lip or mouth does not form properly during pregnancy. Surgery to repair this usually occurs in the first few months of life and is recommended within the first 18 months of life. Congenital heart defects are conditions that are present at birth and can affect the structure of a baby’s heart and the way it works.
They are the most common type of birth defect. Pulmonary atresia is a birth defect of the heart where the valve that controls blood flow from the heart to the lungs doesn’t form at all. An atrial septal defect is a birth defect of the heart in which there is a hole in the septum that divides the upper chambers of the atria. Down syndrome is a genetic disorder caused by extra copy of 21st chromosome ie Trisomy 21. It includes a combination of birth defects, including mental retardation, characteristic facial features, and often a range of health issues, such as impaired hearing, impaired vision, and heart defects.
There are a large number of different musculoskeletal abnormalities affecting one or a combination of bone and muscle development in the skull, trunk and limbs.
Causes: Congenital anomalies are a diverse group of disorders of prenatal origin which can be caused by single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens and micronutrient deficiencies. Socioeconomic factors like maternal nutrional status, genetic factors, infections during pregnancy, and environmental factors like exposure to pesticides, medications, alcohol etc. are the causes and risk factors. Chromosome anomaly can be structural or numerical. Some of the numerical anomalies are detected after the baby is born since these babies can otherwise survive. For example 45XO Turner’s syndrome, baby is born as a girl, her ovaries are streak and will not be able to function as normal female. Some of the anomalies are recurrent, will not progress beyond 12th week of intrauterine life and results in recurrent abortion. These are conditions where aneuploidy is responsible in which chromosome number is abnormal. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells.
Prevention: Preconception counseling to the would-be mother especially if she is coming from a family history of diabetes will help her to plan her pregnancy and maintain normal glycemic level which may prevent abnormalities due to diabetes. Antenatal screening includes screening for maternal age, RH blood group incompatibility, carrier screening for genetic disorders, and advise not to use alcohol or tobacco. During late pregnancy, teaching the mother about foetal movement count and to watch out for any abnormal vaginal discharge will help in early detection of premature rupture of membrane and any other complications. In early pregnancy, there is double marker test, PAPPA test (pregnancy-associated plasma protein A) ultrasound evaluation of intrauterine gestational sac and yolk sac ratio. As the woman crosses the first trimester there are various blood tests like triple marker test and ultrasonography to rule out some of the congenital anomalies. Newborn screening tests look for developmental, genetic, and metabolic d-+isorders in the newborn baby. Screening for deafness and heart defects as well as early detection of birth defects can facilitate life-saving treatments and prevent the progression towards some physical, intellectual, visual or auditory disabilities.
To build up a healthy, intelligent next generation, preconceptional counseling, good antenatal care and good intra and post-partum care of the baby will help the baby, parents and society.
(Dr. N. P. Vijayalakshmy M.D.., D.G.O. is chief medical officer of Vijaya Institute of Medical Sciences, Cochin, Kerala)
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