2021 Bioethics law : Pre-natal diagnosis

Bioethics Law
19/07/2024

2021 Bioethics law : Pre-natal diagnosis

Table of contents

 

I.Diagnosis and screening, what is the difference ?

II. What changes were introduced by the 2021 bioethics law ?

III. PND and ethical questions

Pre-natal diagnosis or PND covers all the medical practices for detecting anomalies or malformations of a baby at the foetal or embryonic stage. According to article L2131-1 of the French health code “Pre-natal diagnosis refers to the medical practices, including obstetric and foetal ultrasound scans, aimed at the detection in utero of particularly serious conditions in the embryo or foetus.”

 

Pre-natal diagnosis is aimed at a triple objective :

  • Improvement of the medical treatment of children born with a health problem,
  • Preparation of parents socially and psychologically for the arrival of their baby with special needs, but also in certain cases,
  • Asserting the serious nature of certain pathologies in order to undertake a medically induced abortion, which is authorised in France up to the term of the pregnancy.

When a foetal anomaly is detected, it must be asserted by one of the multi-disciplinary pre-natal diagnosis centres (CPDPN), which are supervised and approved by the French Biomedicine Agency (ABM).

I. Diagnosis and screening, what is the difference ?

 

Pre-natal diagnosis is based on imagery examinations and biological dosages, but also more invasive examinations (amniocentesis). The first tests conducted during pregnancy are generally SCREENING tests (ultrasound scan, blood dosage based on a blood test from a sample of the mother’s blood), and indicate the need or otherwise to conduct a DIAGNOSIS, in general via an amniocentesis or sampling of chorial villus, examinations which involve a far from negligible risk of miscarriage ( 0.5% to 1%).

Introduced in France in 2013, non-invasive pre-natal diagnosis (NIPD) is a pre-natal screening technique, which enables the early detection of chromosome  anomalies in the foetus and in particular forms of trisomy 21, trisomy 13 and 18. From a simple blood test of the pregnant mother, the NIPD test analyses fragments of the foetus ADN, which circulate in the mother’s blood during pregnancy.

Free of charge since 2018, this test is undertaken by many mothers who are unaware that it is not compulsory. The High Authority for Health (HAS) recommends inclusion of the analysis of the free ADN circulating in the mother’s blood of chromosome 21 when the risk of trisomy 21 of the foetus is considered in regard to the mother’s age, the dosage of serum markers (PAPP-A, ß-HCG) or ultrasound scan measurement of nuchal clarity.

According to the DPN 2022 activity report by the ABM, the screening of aneuploidy (chromosome anomalies), including trisomy 21, remains the most frequent via various methods:

  • The screening of trisomy 21 by the mother’s serum markers (618 027 women tested in 2022, i.e. 85.5 % of births, compared with 629 688 women screened in 2021),
  • NIPD whose number has increased since 2021, reached 129 804 in 2022
  • Aneuploidy diagnosis by foetal karyotype, an invasive examination which consists in taking a sample to confirm the diagnosis of the screened anomaly. The reduction in 2022 is linked in particular to the increase in NIPD and diagnosis by chromosome analysis by ADN chip (CAAC), claimed to be more accurate than the karyotype test.

II. What changes were introduced by the 2021 bioethics law ?​

 

  1. Extension of PND to a genetic investigation of the parents in the event of a fortuitous discovery during the habitual examinations :

Whenever genetic information is discovered during a test without being specially targeted, it is used in the context of “foetal medicine”, previously known as pre-natal diagnosis. According to article L. 2131-1, VI 

“The pregnant mother is also informed that certain medical biology examinations for diagnostic purposes […] may reveal foetal genetic characteristics with no definite relationship with the initial indication of the examination and that, in such case, further investigations, in particular examinations of the genetic characteristics of each parent, may be conducted under the conditions of the device specified at article L. 1131-1.

  1. Changes introduced by the bioethics law on medically induced abortion (MIA)

The law does not substantially modify MIA but nevertheless introduces significant changes to the conditions in both substance and form.

  • Partial abortion of a multiple pregnancy

“Embryonic reduction” is the term used to describe the practice which consists in eliminating one or more foetuses in the context of a multiple pregnancy, even if they are in good health. The August 2021 bioethics law specifies that an “embryonic reduction” may be conducted before the end of the twelfth week of pregnancy if it “reduces the risks of a pregnancy where the multiple nature is a hazard for the health of the mother, the embryos or the foetuses” (art. L. 2213-1, II).

The conditions are less stringent than for a standard abortion in that the “hazard”, which is liable to affect the health of the mother as well as the embryos or the foetuses according to the age of the pregnancy, does not necessarily have to be serious.

  • Abortion for non emancipated minors

The law applies to MIA the provisions which exist for abortions for minors. Even in the event of refusal by the parents or a possible guardian, an MIA may be performed on a minor providing the pregnant minor is accompanied by an adult of her choice, as in the case of abortion.

  • Notification obligation by the doctor in the event of refusal to practice an MIA

The 2021 bioethics law added article L. 2213-4 specifying that “any doctor who refuses to practice an MIA must notify the pregnant mother without delay of the said refusal and immediately provide her with the details of practitioners liable to perform the procedure“.

  • Deletion of the cooling-off period

The law finally deletes the obligation to allow the pregnant mother a cooling-off period of at least one week before ending the pregnancy in the event of a high probability that the child to be born will be suffering from a particularly serious condition which is recognised as incurable at the moment of diagnosis.

 

 

III. PND and ethical questions​

In the field of pre-natal diagnosis, major progress now ensures better anticipation during pregnancy, of the possible need for the treatment of the child at birth, or even in utero. Nevertheless, as the diagnosis of an anomaly in the child to be born most often leads to an MIA, there is every reason for doubt.

Gradually PND combined with a proposed MIA has become the “good medical practice”. Trisomy has become emblematic : France holds the world record for its screening.

In the event of a chromosome anomaly, no treatment, or support are offered. In 2021, 1 861 “particularly serious assertions” were thus issued following a trisomy 21 diagnosis. According to the ABM report, in 2021, 97% of women who had received such an assertion from the CPDPN in view of an MIA for a foetal reason resorted to it.

In 2021, the UN committee for the rights of the handicapped criticised France for its systematic pre-natal screening policy for trisomy 21, which is demeaning for those suffering from handicap.

The growing technicality of pregnancy has generated a vicious circle where :

  • The medical profession feels obliged to screen anomalies in utero by constantly improving the PND tools ;
  • Parents expect ever more from technical progress in order to achieve a child with the least possible defects.

Among the expected progress, note the need to guarantee to future parents truly free consent by the development of all the measures necessary to facilitate the acceptance of a child for which a disease or a handicap has been detected, which is not the case today.

During the debates for the 2021 bioethics law, experts and MPs denounced the eugenics of the PND practices in France. In an Advice issued in 2022, the National Consultative Ethics Committee insisted on the need for “announcement ethics”, including three criteria :

  • Firstly, the plurality of options (information is of true ethical value when it enlightens, without dictating, a choice which remains open to different possible actions).
  • Then neutrality (calling for the greatest oratory caution when mentioning the possibility of an MIA,: “The simple fact of considering the possibility of an abortion can act as an incitement, insofar as, tacitly, the doctor judges the situation to be concerning”).
  • Finally, temporality (the time factor is part of the conditions for non constrained thought).

 

Conclusion 

Pre-natal diagnosis should be aimed exclusively at the medical treatment of the anomalies detected. Any policy in favour of support for the handicapped and medical research cannot today ignore consideration of the temptation for eugenics which is invading our society.

 

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