Perinatal medicine

Published on 21/03/2015 by admin

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Last modified 21/03/2015

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Perinatal medicine

The term ‘perinatal medicine’ refers to medical care of the infant before, during and after birth, acknowledging the continuity of fetal and neonatal life. Using modern technology, such as high-resolution ultrasound and DNA analysis, detailed information about the fetus can now be obtained for a large and increasing number of conditions. Close cooperation is important between the professionals involved in the care of the pregnant mother and fetus and those caring for the newborn infant.

Some definitions used in perinatal medicine are:

Pre-pregnancy care

The better a mother’s state of health and nutrition, and the higher her socioeconomic living standard and the quality of healthcare she receives, the greater is the chance of a successful outcome to her pregnancy.

Couples planning to have a baby often ask what they should do to optimise their chances of having a healthy child. They can be informed that for the mother:

• Smoking reduces birthweight, which may be of critical importance if born preterm. On average, the babies of smokers weigh 170 g less than those of non-smokers, but the reduction in birthweight is related to the number of cigarettes smoked per day. Smoking is also associated with an increased risk of miscarriage and stillbirth. The infant has a greater risk of sudden infant death syndrome (SIDS).

• Pre-pregnancy folic acid supplements reduce the risk of neural tube defects in the fetus. Low-dose folic acid supplementation is recommended for all women planning a pregnancy. A higher dose is recommended for women with, or have a close relative with, a previously affected fetus.

• Any long-term conditions, such as diabetes and epilepsy, must be reviewed and management changed if necessary.

• Certain medications such as retinoids, warfarin and sodium valproate must be avoided because of teratogenic effects.

• Alcohol ingestion and drug abuse (opiates, cocaine) may damage the fetus.

• Congenital rubella is preventable by maternal immunisation before pregnancy.

• Exposure to toxoplasmosis should be minimised by avoiding eating undercooked meat and by wearing gloves when handling cat litter.

• Listeria infection can be acquired from eating unpasteurised dairy products, soft ripened cheeses, e.g. brie, camembert and blue veined varieties, patés and ready-to-eat poultry, unless thoroughly re-heated.

• Eating liver during pregnancy is best avoided as it contains a high concentration of vitamin A.

Any pre-existing maternal medical condition (e.g. hypertension, HIV) or obstetric risk factors for complications of pregnancy or delivery (e.g. recurrent miscarriage or previous preterm delivery) should be identified and treated or monitored. Obesity increases the risk of developing gestational diabetes and pregnancy-induced hypertension.

Couples at increased risk of inherited disorders should receive genetic counselling before pregnancy. They can then be fully informed, decide whether or not to proceed, and consider antenatal diagnosis if available. Pregnancies at increased risk of fetal abnormality include those in which:

Antenatal diagnosis

Antenatal diagnosis has become available for an increasing number of disorders. Screening tests performed on maternal blood and ultrasound of the fetus are listed in Box 9.1. The main diagnostic techniques for antenatal diagnosis are maternal serum screening, detailed ultrasound scanning, chorionic villus sampling (at >10 weeks of pregnancy) and amniocentesis (>15 weeks) (Fig. 9.1). In some rare conditions, preimplantation genetic diagnosis (PGD) allows genetic analysis of cells from a developing embryo before transfer to the uterus. The structural malformations and other lesions which can be identified on ultrasound are listed in Box 9.2, with an example in Figure 9.2.

Box 9.1   Screening tests for antenatal diagnosis

Ultrasound screening

Gestational age – can be estimated reliably if early in pregnancy

Multiple pregnancies – can be identified

Structural malformation – 50–70% of major congenital malformations can be detected. If a significant abnormality is suspected, a more detailed scan by a specialist is indicated

Fetal growth – can be monitored by serial measurement of abdominal circumference, head circumference and femur length

Amniotic fluid volume – oligohydramnios may result from reduced fetal urine production (because of dysplastic or absent kidneys or obstructive uropathy), from prolonged rupture of the membranes or associated with severe intrauterine growth restriction. It may cause pulmonary hypoplasia and limb and facial deformities from pressure on the fetus (Potter syndrome)

Polyhydramnios – is associated with maternal diabetes and structural gastrointestinal abnormalities, e.g. atresia in the fetus

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Antenatal screening for disorders affecting the mother or fetus allows:

Parents require accurate medical advice and counselling to help them with these difficult decisions. Many transient or minor structural disorders of the fetus are also detected, which may cause considerable anxiety.

Fetal medicine

The fetus can sometimes be treated by giving medication to the mother. Examples include:

Case History

9.1 Antenatal diagnosis

A routine ultrasound scan at 18 weeks’ gestation identified an abnormal ‘lemon-shaped’ skull (Fig. 9.3). This, together with an abnormal appearance of the cerebellum, is the Arnold–Chiari malformation, which is associated with spina bifida. An extensive spinal defect was confirmed on ultrasound. Dilatation of the cerebral ventricles and talipes already present in this fetus suggested a severe spinal lesion. After counselling, the parents decided to terminate the pregnancy.

There are a few conditions where therapy can be given to the fetus directly:

• Rhesus isoimmunisation. Severely affected fetuses become anaemic and may develop hydrops fetalis, with oedema and ascites. Infants at risk are identified by maternal antibody screening. Regular ultrasound of the fetus is performed to detect fetal anaemia non-invasively using Doppler velocimetry of the fetal middle cerebral artery. Fetal blood transfusion via the umbilical vein may be required regularly from about 20 weeks’ gestation. The incidence of rhesus haemolytic disease has fallen markedly since anti-D immunisation of mothers was introduced but hydrops fetalis is still seen due to other red blood cell antibodies such as Kell.

• Perinatal isoimmune thrombocytopenia. This condition is analogous to rhesus isoimmunisation but involves maternal antiplatelet antibodies crossing the placenta. It is rare, affecting about 1 in 5000 births. Intracranial haemorrhage secondary to fetal thrombocytopenia occurs in up to 25%. The problem may be anticipated if there was a previously affected infant, when prenatal intravenous immunoglobulin can be given or repeated intrauterine platelet transfusions performed.

Fetal surgery

Fetal surgery is a relatively new development with varying results. Procedures which have been performed include:

• Catheter shunts inserted under ultrasound guidance. This is to drain fetal pleural effusions (pleuro-amniotic shunts), often from a chylothorax (lymphatic fluid) or congenital cystic adenomatous malformation of the lung. One end of a looped catheter lies in the chest, the other end in the amniotic cavity.

• Laser therapy to ablate placental anastomoses which lead to the twin–twin transfusion syndrome (TTTS)

• Intrauterine shunting for obstruction to urinary outflow as with posterior urethral valves

• Dilatation of stenotic heart valves via a transabdominal catheter inserted under ultrasound guidance into the fetal heart. Results appear promising

• Endotracheal balloon occlusion for congenital diaphragmatic hernia, as tracheal obstruction in utero may promote lung growth

• Surgical correction by hysterotomy. This is when the uterus is opened at 22–24 weeks’ gestation. It has been performed in a few specialist centres for spina bifida but may precipitate preterm delivery and its efficacy remains highly uncertain. Results of fetal surgery to close spina bifida suggest that hydrocephalus may be reduced but does not improve the prognosis of the spinal lesion.

Outcome has mostly been very poor because of the severity of the conditions treated. Careful case selection and follow-up are required to ensure that these novel forms of treatment are of long-term benefit.

Obstetric conditions affecting the fetus

Pre-eclampsia

Mothers with pre-eclampsia may require preterm delivery because of the maternal risks of eclampsia and of cerebrovascular accident or the fetal risks associated with placental insufficiency and growth restriction. Determining the optimal time for preterm delivery requires an evaluation of the risk to the mother and fetus of allowing the pregnancy to continue compared with the neonatal complications associated with pre-term birth.

Multiple births

Twins occur naturally in the UK in 1 in 90 deliveries, triplets in 1 in 902, i.e. approximately 1 in 8000, and quadruplets in 1 in 903, i.e. approximately 1 in every 700 000 deliveries. Over the last decade, the number of triplets and higher-order births has more than doubled, mainly from assisted reproduction programmes and advancing maternal age. One in 70 births is now a multiple birth, although the number of triplets and higher-order births has recently declined in the UK.

The main problems for the infant associated with multiple births are:

• Preterm labour. The median gestation for twins is 37 weeks, for triplets 34 weeks and for quads 32 weeks. Preterm delivery is the most important cause of the greater perinatal mortality of multiple births, especially for triplets and higher-order pregnancies. When a higher-order pregnancy is identified, embryo reduction may be offered.

• Intrauterine growth restriction (IUGR). Fetal growth in one or more fetuses may deteriorate and needs to be monitored regularly.

• Congenital abnormalities. These occur twice as frequently as in a singleton, but the risk is increased four-fold in monochorionic twins.

• Twin–twin transfusion syndrome (TTTS) in monochorionic twins (shared placenta). May cause extreme preterm delivery, fetal death and discrepancy in growth.

• Complicated deliveries, e.g. due to malpresentation of the second twin at vaginal delivery.

Finding sufficient intensive care cots for preterm multiple births can be problematic.

Although multiple births may look endearing, the families may need additional assistance and support:

There are local and national support groups for parents of multiple births.

Maternal conditions affecting the fetus

Diabetes mellitus

Women with insulin-dependent diabetes find it more difficult to maintain good diabetic control during pregnancy and have an increased insulin requirement. Poorly-controlled maternal diabetes is associated with polyhydramnios and pre-eclampsia, increased rate of early fetal loss, congenital malformations and late unexplained intrauterine death. Ketoacidosis carries a high fetal mortality. With meticulous attention to diabetic control, the perinatal mortality rate is now only slightly greater than in non-diabetics. The National Institute for Health and Clinical Excellence (NICE) has produced guidance on the management of diabetes and its complications from preconception to the postnatal period. The emphasis is on aiming for good control of blood glucose.

Fetal problems associated with maternal diabetes are:

• Congenital malformations. Overall, there is a 6% risk of congenital malformations, a three-fold increase compared with the non-diabetic population. The range of anomalies is similar to that for the general population, apart from an increased incidence of cardiac malformations, sacral agenesis (caudal regression syndrome) and hypoplastic left colon, although the latter two conditions are rare. Studies show that good diabetic control periconceptionally reduces the risk of congenital malformations.

• Intrauterine growth restriction (IUGR). There is a three-fold increase in growth restriction in mothers with long-standing microvascular disease.

• Macrosomia (Fig. 9.4). Maternal hyperglycaemia causes fetal hyperglycaemia as glucose crosses the placenta. As insulin does not cross the placenta, the fetus responds with increased secretion of insulin, which promotes growth by increasing both cell number and size. About 25% of such infants have a birthweight greater than 4 kg compared with 8% of non-diabetics. The macrosomia predisposes to cephalopelvic disproportion, birth asphyxia, shoulder dystocia and brachial plexus injury.

Neonatal problems include:

Gestational diabetes is when carbohydrate intolerance occurs only during pregnancy. Its definition and method of identification remain controversial. It is more common in women who are obese and in those of Afro-Caribbean and Asian ethnicity. The incidence of macrosomia and its complications is similar to that of the insulin-dependent diabetic mother, but the incidence of congenital malformations is not increased. However, there are an increasing number of mothers with type 2 non-insulin dependent diabetes, associated with the increase in obesity in the population. Their fetuses are also at increased risk of congenital malformations.