How can we tell that the fetus would have severe handicap? -checksum="32047" ends

Screening for fetal chromosomal abnormalities on the basis of maternal age has not resulted in a substantial fall in the proportion of infants born with an abnormal karyotype. Most fetuses with major chromosomal abnormalities have defects that can be recognised on detailed ultrasonographic examination. Therefore, provided the cardinal signs of each chromosomal syndrome are recognised, it is possible that screening by ultrasound examination could have a greater impact. We karyotyped 2086 fetuses after ultrasonographic examination had revealed fetal malformations, growth retardation, or both. Chromosomal abnormalities were detected in 301 (14%) cases and were more common among fetuses with multisystem malformations (29%) than among those with isolated defects (2%). The commonest chromosomal abnormality was trisomy 18, followed by trisomy 21, triploidy, Turner Syndrome, unbalanced chromosomal rearrangements, and trisomy 13, Trisomy 18 was associated with strawberry-shaped head, choroid plexus cysts, facial cleft, micrognathia, heart defects, exomphalos, malformations of hands and feet, and growth retardation. In trisomy 21, the associated defects were subtle and included nuchal oedema, macroglossia, atrioventricular septal defects, mild hydronephrosis, clinodactyly, and sandal gap. The Frequency of autosomal abnormalities increased with maternal age, but if fetal karyotyping had been restricted to mothers older than 35 years, large proportions of chromosomally abnormal fetuses would not have been diagnosed prenatally (64-97%). Our findings provide guidelines as to which defects to search for in screening studies for the detection of chromosomal abnormalities.

Please click on the required question.

• 1 What does the term abortion mean?
• 2 What are the legal criteria that permit doctors to terminate a pregnancy in the UK?
• 3 How could we tell if there is a substantial risk that if the child were born it would suffer from such physical abnormalities as to be seriously handicapped - e.g. Down Syndrome?
• 3A What is Tay Sachs and should we test for it?
• 4 How prevalent is pregnancy termination?
• 5 Why do unwanted pregnancies occur?
• 6 I think I may be pregnant and I do not want to have a baby now. What should I do?
• 7 Should I terminate my pregnancy for social reasons?
• 8 How can my pregnancy be terminated?
• 9 What does a suction (surgical) termination of pregnancy involve?
• 10 What is a medical abortion?
• 11 What will happen to me if I have a medical abortion?
• 12 How do medical and surgical pregnancy termination compare?
• 13 What are the chances of medical termination failing?
• 14 What are the risks of pregnancy termination?
• 15 Why is there debate about the ethics of pregnancy termination?
• 16 Support Groups.
• 17 Where can I obtain more information?
  

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This is the personal website of David A Viniker MD FRCOG, Consultant Obstetrician and Gynaecologist at Whipps Cross University Hospital, London - Specialist Interests - Reproductive Medicine including Infertility, PCOS, PMS, Menopause and HRT.

I do hope that you find the answers to your women's health questions in the patient information and medical advice provided.