Prepregnancy counselling, prenatal diagnosis and antenatal care

Published on 09/03/2015 by admin

Filed under Obstetrics & Gynecology

Last modified 22/04/2025

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11 Prepregnancy counselling, prenatal diagnosis and antenatal care

Prepregnancy counselling

Many pregnancies are unplanned but some women will request prepregnancy advice from their general practitioner (GP). At other times the discussion may take place opportunistically, for example during a routine gynaecology appointment or in counselling after a miscarriage. It is very important that women with specific medical problems such as diabetes, epilepsy and heart or renal disease are referred for prepregnancy assessment and management by a specialist obstetrician or physician. The aim of prepregnancy counselling is to optimize the outcome of the pregnancy for the fetus and to minimize the effect of pregnancy on any medical problems in the mother.

General advice

Medications

Drugs in pregnancy

The National Teratology Information Service and individual drug data sheets give information on harmful effects of drugs in pregnancy. Many common drugs such as paracetamol, penicillins and cephalosporins are safe in pregnancy. Non-steroidal anti-inflammatory drugs should be avoided because of their likely link with miscarriage in the first trimester and oligohydramnios and patent ductus arteriosus later in pregnancy.

Women on warfarin therapy should be converted to heparin, preferably low-molecular-weight, before pregnancy occurs in view of the association between warfarin and congenital abnormality, and this is an important point in prepregnancy counselling. This risk occurs between 6 and 12 weeks’ gestation. However, women with artificial heart valves, in whom the risk of stopping warfarin is very significant, should be seen by the haematologist prior to pregnancy to plan anticoagulation management, weighing the risk of thrombosis and stroke from suboptimal anticoagulation against teratogenicity and fetal or maternal haemorrhage from warfarin.

Antiepileptic medications are associated with congenital malformations and should be reviewed prepregnancy to reduce the number of different drugs, thus reducing the risk to the fetus.

Angiotensin-converting enzyme inhibitors can cause skull defects, oligohydramnios and renal complications in the fetus. Diuretics should be avoided, as they are teratogenic in animal studies. Beta-blockers may cause growth restriction, hypotension and neonatal bradycardia in the fetus and are generally avoided. Calcium channel antagonists, hydralazine and labetalol are not known to be harmful but methyldopa has been used most safely in pregnancy and a plan should be made to convert most women on other hypertensives to methyldopa or labetalol once pregnancy is confirmed.

Fetal abnormality and genetic disorders

Parents with a family history or previous personal history of a baby with a fetal structural abnormality (e.g. neural tube defect), chromosomal disorder (e.g. trisomy 21) or gene disorder (e.g. muscular dystrophy, cystic fibrosis or haemoglobinopathies) have an increased risk of future pregnancies being affected. Details of prepregnancy and antenatal tests for such conditions should be explained. Prior to pregnancy these may include karyotyping or DNA analysis of both parents, and possibly extended-family members. In pregnancy, early scans and diagnostic tests, such as chorionic villous sampling (CVS) and amniocentesis, are available to diagnose many disorders.

Couples must be allowed to choose the investigations they would like and at what stage. Many parents choose to decline all preconceptual and prenatal testing for fetal abnormality.

For some specific disorders steps may be taken to reduce the chance of a fetus being affected. For example, women with a high risk of neural tube defect in their fetus should take a higher dose of folic acid preconceptually (5 mg daily).

Specific medical conditions

Women with the following medical problems should have specialist review of their management prior to pregnancy.

Prenatal diagnosis

Prenatal diagnosis refers to the diagnosis of fetal abnormalities in utero. The abnormalities may be minor or severe. If severe they may not be compatible with life or may be likely to cause long-term serious morbidity or handicap. Some abnormalities may require therapy in utero or a plan made for postnatal management. Screening programmes focus on the commonest chromosomal abnormality, Down’s syndrome (trisomy 21), though both the ultrasound and serum tests often detect other chromosomal and structural abnormalities. There is an important distinction between screening tests and diagnostic tests.

Screening tests

Screening tests give an estimate of risk for that particular pregnancy. Age alone, for example, is a risk factor for Down’s syndrome; in the baby of a woman aged 20 the risk is 1 in 1500, whereas at age 40 it is 1 in 50. Paternal age has no effect on fetal chromosomal abnormality.

Diagnostic tests

Diagnostic tests give a couple a definite answer that their baby does or does not have a disorder. They may be performed after a positive Down’s syndrome screening result or may be requested by the woman instead of a screening test. They are also used where the pregnancy is known to be at high risk of a single-gene disorder or chromosomal abnormality other than Down’s syndrome.

Ultrasound in pregnancy

All pregnant women should be offered first- and second-trimester scans. The role of each is as follows.

Antenatal care

Antenatal care aims to optimize the health and well-being of mother and baby, and to detect and treat any abnormal events in pregnancy. The commonest significant disorder diagnosed is pre-eclampsia.

Antenatal care may be provided by the GP, midwife (in hospital or in the community) or the obstetrician team. The commonest is shared care between the midwife and GP, with referral for obstetric input when indicated.

Most women will not need to see an obstetrician unless factors in the booking or during the antenatal period indicate. Indications for referral at booking are shown in Table 11.1.

Table 11.1 Factors at booking indicating referral for obstetric or senior midwifery review

Age over 40 years or under 19 years
Body mass index ≥35 or <18
Grand multiparity (more than six pregnancies)
Conditions such as hypertension, cardiac or renal disease, endocrine, psychiatric or haematological disorders, epilepsy, diabetes, autoimmune diseases, cancer, human immunodeficiency virus (HIV)
Previous caesarean section or other uterine surgery
Previous postpartum haemorrhage
Severe pre-eclampsia or eclampsia
Previous pre-eclampsia or eclampsia
Three or more miscarriages
Previous preterm birth or mid-trimester loss
Previous psychiatric illness or puerperal psychosis
Previous neonatal death or stillbirth
Previous baby with congenital abnormality
Previous small for gestational age (SGA) or large for gestational age (LGA) infant
Family history of genetic disorder

At all visits, the woman should be encouraged to discuss her concerns and any minor disorders of pregnancy, discuss tests and their results, and have her blood pressure and urinalysis checked. In the second trimester growth is assessed by measurement of symphysis–fundal height (SFH) and from 36 weeks, presentation is clinically assessed by palpation. Antenatal visits also provide an opportunity to discuss the forthcoming delivery and the woman’s birth plan.

Women should keep their own obstetric notes, in which all the health professionals involved make their documentation, and all pregnancy results are filed. These are then stored with the main hospital records following delivery.

Women with an uncomplicated first pregnancy would normally be seen 10 times during the pregnancy and parous women who have had previous uncomplicated pregnancies seven times.

Typical timing of antenatal visits, which might be with GP, midwife or obstetrician, for a nulliparous woman are outlined below.

Booking (6–12 weeks)

A medical, gynaecological, obstetric, family and social history should be taken. Drugs and allergies are recorded. Examination should include height and weight, and calculation of BMI. Booking blood pressure must be recorded. Breast or pelvic examination is not indicated and should never be performed in the antenatal setting without a specific indication and informed consent from the woman, with a chaperone present. One such indication for pelvic examination is in a woman with a history of female genital mutilation, who may need early referral to a specialist clinic for antenatal de-infibulation, and a management plan made for delivery.

First-trimester scan should be arranged to confirm dates and screen for Down’s syndrome. If the woman presents after 14 weeks a scan should be arranged to confirm gestation (by biparietal diameter or head circumference) and serum screening for Down’s syndrome offered. Urine should be checked for proteinuria and a midstream urine sample sent to screen for asymptomatic bacteriuria. Booking blood tests should be taken. The woman should be referred to an obstetrician if indicated from the previous history. Information should be given on diet, smoking, alcohol, exercise (see prepregnancy counseling, above) and antenatal care.

Booking blood tests

All the tests should be explained including the reasons why they are being taken and what action might be taken if the results are abnormal:

Rhesus disease and other red-cell alloimmune antibodies

All women should have their blood sent for group and antibody screen at booking as 15% are Rhesus-negative (they do not carry the Rhesus D antigen on their red blood cells). These women are, therefore, at risk of developing anti-D antibodies to a Rhesus-positive fetus. This would not usually occur in a first pregnancy unless sensitization had occurred previously, for example from a blood transfusion. Potentially sensitizing events in the pregnancy include:

Haemolytic disease of the fetus involves anaemia and fetal hydrops, which can result in fetal death if not treated by intrauterine blood transfusion.

The rate of sensitization has reduced to 1.5% by the use of anti-D at delivery and at potentially sensitizing events. However, it is estimated that this rate will reduce to 0.3% if routine anti-D prophylaxis is given to all Rhesus-negative women at 28 and 34 weeks as well as at delivery.

A standard dose of 500 IU anti-D antibody should be given by intramuscular injection at 28 weeks and 34 weeks as well as 500 IU within 72 hours of delivery (if the baby is Rhesus-positive), to prevent development of anti-D antibodies in a non-sensitized mother. Many units have not implemented this policy due to cost and, therefore, use the traditional strategy of giving anti-D antenatally after a potentially sensitizing event. In this case a Kleihauer test should be taken before giving the anti-D. This gives an indication of the volume of fetomaternal haemorrhage by estimating the number of fetal cells present in the maternal circulation. If the result is greater than 4 ml then the anti-D dose needs to be increased accordingly, after liaison with the haematologist.

Women who already have anti-D antibodies, whether from previous pregnancy sensitization or from a blood transfusion in the past, should not be given anti-D prophylaxis, but have their anti-D titre monitored every 4 weeks from booking. If the antibody titre increases to 15 IU/ml then fetal anaemia is likely and cordocentesis may be needed to estimate fetal haemoglobin and allow transfusion of the fetus if necessary.