Identifying problems before a baby is born: Antenatal diagnosis of fetal anomaly

2 July 2014

When a child is born with a serious health problem or disability, parents have the difficult task of coming to terms with the condition and learning to meet their child’s additional needs.  In this situation, questions sometimes arise as to whether the pregnancy was managed appropriately and whether the problem should have been diagnosed antenatally.

Problems (known as fetal anomalies) can often be picked up during pregnancy through antenatal care and screening.   These risk factors should then be discussed with the parents so that important decisions can be made in light of what the future picture is for the baby.

Obstetric ultrasound scans are routinely offered, including a fetal anomaly scan which usually takes place between 18 and 21 weeks, to monitor fetal development.  Although rare, the types of physical problems which may be identified include structural malformations in the brain (such as holoprosencephaly or agenesis of the corpus callosum), neural tube defects (which may cause conditions such as spina bifida), congenital heart malformations, abdominal wall defects and genitourinary problems (such as renal agenesis and polycystic kidney disease).

Other tests which may be undertaken during pregnancy to indicate the possibility of fetal anomaly include serological screening of the mother’s blood, measurement of nuchal translucency and screening for chromosomal (genetic) disorders.

Testing for chromosomal disorders is often undertaken using a sample of amniotic fluid (taken by amniocentesis) or a sample of the placenta (taken by chorionic villus sampling).   Genetic disorders arising from “trisomy” (an extra copy of a particular chromosome), leading to conditions such as Down’s Syndrome, Edward’s Syndrome or Patau’s Syndrome, may be diagnosed.   Other genetic anomalies may also be identified through analysis of the fetal chromosomes.

Diagnosis of  serious physical or chromosomal problems will have important implications for parents in deciding whether to continue the pregnancy.    Antenatal diagnosis may also help in planning for any medical intervention or additional support the child may require after birth.

Other problems in pregnancy can be identified during antenatal monitoring, such as fetal growth restriction and excessive or inadequate amounts of amniotic fluid (polyhydramnios and oligohydramnios).  The identification of problems may affect the medical care provided during the remainder of the pregnancy and the birth plan, to reduce risk to mother and baby.

It is not always possible for medical practitioners to identify or avoid situations in which a child is born with significant disability.  In some cases, however, where a reasonable standard of antenatal care has not been provided, it may be possible to bring a claim for clinical negligence.  The main purpose of such claims is to seek compensation to meet the additional needs of the disabled child.

Kingsley Napley is experienced in acting in clinical negligence claims relating to the obstetric management of pregnancy and failure to diagnose fetal anomalies. If you would like advice, please contact the Clinical Negligence and Personal Injury team on 020 7814 1200 or by emailing us at

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