Sunday, July 25, 2021

Genetic Problems

This is an INFORMATION page, verified by physician

Your gynaecologist will ask about your family history as part of your pre-conception assessment. There are some conditions that run in families. Some conditions that suggest your baby may be at increased risk of a health problem.

The vast majority of babies are born healthy but a small number (2 to 3 in 100) have an abnormality at birth. Most of these abnormalities are classified as minor. This means that they don’t interfere with the baby’s physical health or intellectual ability. A small proportion of abnormalities are considered major. This is because they can impair the baby’s quality of life or may be linked with stillbirth or premature death.

Genetic Screening

Genetic problems in the unborn baby are very rare. Less than 1 in 500 pregnancies have genetic problems. But there are some conditions which make having a pregnancy affected by a genetic disorder more common.

Older women (over the age of 36 years) have an increased risk of having a baby with three copies of a chromosome. Such as in conditions like Down syndrome (three copies of chromosome 21 as shown below). This might be a factor in your decision-making about when is the right time for you to start a family.

Standard-human-karyotype

Miscarriages

Couples experiencing two or more miscarriages may have an underlying genetic problem. This may be in one or both parents and genetic testing of parental chromosomes may be indicated. Both partners should give as much information as possible to your gynaecologist about previous pregnancies. Regardless of the outcome of those pregnancies. Your information will be kept completely confidential and only disclosed with your consent.

Inherited conditions

If there is a family history of inherited conditions there may be an increased risk to your pregnancy. So please give as much family history to your gynaecologist as you can.

You will be offered screening for conditions such as sickle cell disease and thalassaemia. These are known as haemoglobinopathies. These conditions usually cause no or very mild symptoms in carriers. But if a child inherits the abnormal haemoglobin gene from both parents, they can suffer from serious blood disorders.

There are other rare genetic disorders such as cystic fibrosis. These only cause problems if a baby inherits the abnormal gene from both parents. It is now possible to screen for some of these conditions.

Cystic-fibrosis

The woman has a blood test to look for the abnormal gene and if one is detected, then her partner is also screened. In the very rare situation of both of the couple carrying the same abnormal gene, the baby has a 1 in 4 (25%) chance of being affected. In this rare (but serious) situation, an affected pregnancy can be avoided by a specific type of IVF treatment called pre-implantation diagnosis. Your gynaecologist can explain this to you in more detail if it’s relevant to you.

The law in Cayman.

It is important to remember that termination of pregnancy is against the law in the Cayman Islands.

Ask your gynaecologist for more information about screening for anomalies in pregnancy.

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about the author

Dr Lisa Joels

MB ChB, MD, FRCOG, FHEA

OBSTETRICIAN & GYNAECOLOGIST

Dr Joels has 34 years’ experience in obstetrics and gynaecology including 19 years as a Consultant working in Swansea (2001-11) and subsequently at the Royal Devon & Exeter NHS Foundations Trust in the UK (2011-20). These are both University teaching hospitals, each having more than 4,000 deliveries a year and providing tertiary obstetric and neonatal services as well as gynaecological services to their local population.



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