Asignaturas del Cuarto Curso

Background

1. Diversification and accuracy of investigational methods applied to prenatal diagnosis have considerably progressed during the past decade, leading to identify before birth of an increasing number of ill conditions known to severely affect the neonate. These methods include Pre-implantation Genetic Diagnosis (PGD), fetal DNA screening in maternal blood, chorionic villous sampling, serum biochemical screening tests for Down’s syndrome or neural tube defect, amniocentesis, cordocentesis. Diagnostic tools include molecular biology, such as Polymerase Chain Reaction (PCR), molecular genetics, Fluorescence In Situ Hybridisation (FISH) for rapid chromosomal defects detection, chromosomal micro satellite analysis, high definition fetal imaging with ultrasound, Doppler, MRI, helicoid scanner or fetoscopy.

2. In countries where these techniques are available, the main purpose of prenatal diagnosis is to inform parents of the presence of congenital diseases which may or may not lead to pre- or post-natal therapy or may lead to termination of pregnancy. Clearly PGD may avoid more difficult choices and, as appropriate, should be offered as an option.

3. Delivering and raising a severely malformed baby may create physical, mental and social harm to the parents and their other children. Some parents may choose to be informed to prepare for this burden. Others may find the burden will cause too great a harm. Denying parents the possibility to avoid the afflicting burden of a severely compromised child may be considered as unethical.

couples to oppose prenatal therapy or refuse medical abortion. For instance, Jehovah’s Witnesses may deny intra-uterine blood transfusion for their anaemic fetus. Similarly, strict religious obedience may allow termination of pregnancy only for reasons of maternal life-threatening conditions. In addition, invasive fetal investigations carry the risk of miscarriage, which may be unacceptable to the pregnant woman or couple.

5. Legal regulations on medical termination of pregnancy for fetal disease, if enacted, differ widely among countries. Some countries legally ban any termination of pregnancy, whatever the term of pregnancy and whatever the medical indication for abortion. Other countries legalise medical abortion up to the limit of “fetal viability”, usually 24 weeks, others accept termination of pregnancy for fetal disease up to full term.

6. Induced abortion practiced at mid-term and later has the potential of leading to the birth of a severely sick or malformed but live-born neonate. Provisions that ensure a stillbirth are usually practiced for fetuses undergoing a medical abortion beyond 22 weeks’ gestation. 7. In some countries, medical termination of pregnancy may be legally authorized only for a fetal disease which is of particular severity, incompatible with a normal life. There is no medical definition of the threshold of severity of a fetal disease, nor is there a social definition of a normal life for a neonate. Acceptability of a severely compromised life is highly dependant on the parent’s capacity to cope with the child’s condition.

8. Most of the time, termination of pregnancy is accepted for a proven fetal disease, i.e. irreparable congenital heart disease, gross brain malformation, which will later be eventually confirmed at autopsy. However, in some instances a medical abortion may be decided only because of a high risk, but not a certitude, of handicap or mental retardation, i.e. retinoid ingestion early in pregnancy, corpus callosum agenesis. In addition, chromosomal anomalies discovered at amniocentesis or brain malformations evidenced at routine ultrasound screening, and confirmed by MRI, may remain of unknown clinical consequence, and incite parents to request a termination of pregnancy. Due to the potential complexity of their

indications, no normative list of diseases deemed to justify medical abortion has been established, leaving the decision to each individual case.

9. In most countries where termination of pregnancy for fetal disease is accepted, prenatal diagnosis is directed to specialised multidisciplinary centres, including obstetricians, pediatricians, geneticists, pediatric surgeons, pathologists, and psychologists. When appropriate, medical termination of pregnancy is proposed, but never imposed, to patients. Patients are entitled to be fully informed of the condition of the fetus. The revelation of a fetal anomaly, whatever its severity, is always appalling for parents, who need not only technical advice, but above all full psychological and affective support. It is usually recommended that stillborn babies be presented to their parents, in order optimally to initiate the mourning and healing process.

10. Very premature neonates, as well as fetuses of the same gestational age, anatomically display nerve receptors to pain. Premature babies express reaction to pain and great attention is therefore paid to prevent or alleviate their suffering by appropriate precautions or medications. It is accepted that fetuses experience the same level of pain as neonates and that they respond to, and therefore are entitled to receive, the same type of medications. In addition, whenever a parent opts to maintain pregnancy for the severely affected or malformed fetus, all appropriate care, including pain relieving medication, is granted to the neonate as long as necessary.

Recommendations

1. Since it may offend personal, cultural or religious beliefs, no woman, beyond the practice of routine ultrasound screening, must be engaged in the process of prenatal diagnosis without being fully informed of its aims, including eventual termination of pregnancy, and its potential hazard of causing miscarriage.

2. In countries where it is an accepted medical practice, whenever a severe untreatable fetal disease or malformation incompatible with a normal life is diagnosed by prenatal diagnosis, termination of pregnancy must be offered to the parents. However, women and

couples must never be compelled to accept a medical abortion, whatever the severity of the fetal handicap, against their personal, cultural or religious beliefs. Parents must be fully informed of the condition of their fetuses. Physicians must not impose their personal preferences or beliefs, nor influence the decisions of parents placed in distress because of the diseases of their fetuses, and in a situation of high vulnerability.

3. Prenatal diagnosis and decisions to terminate pregnancy must be restricted to specialised, licensed, multidisciplinary centres subjected to regular quality controls. Parents seeking prenatal diagnosis must receive not only technical advice but also the benefit of full psychological support.

4. Termination of pregnancy following prenatal diagnosis must not be presented as an abortion, but as a pharmacologically-induced premature delivery, with full maternal pain relief and professional birth attendance, indicated only because the fetus, fully worthy of compassion, is affected by a severe untreatable disease or malformation.

5. When termination of pregnancy beyond 22 weeks is legal, most women and parents would prefer to deliver a stillborn in the circumstance of the fetus being affected by a severe congenital malformation. Offering counselling about the options designed to insure the delivery of a stillbirth is important.

6. Termination of pregnancy following prenatal diagnosis after 22 weeks must be preceded by a feticide starting with the injection into the fetal circulation of anesthetics and anti-pain medication. In order better to initiate the mourning process, parents must be encouraged, if they feel strong enough, to contemplate their stillborn babies after birth. If they would accept an autopsy, they must also be properly advised about its benefit in view of better counselling for a future pregnancy. The future child must never be presented as a substitute in replacement of the deceased fetus. Options for burial of the fetus must be offered to the parents according to their beliefs.

7. If after prenatal diagnosis parents opt to maintain pregnancy, appropriate care must be offered to their sick or malformed neonates. Lyon, June 2007