Defining congenital anomalies - a challenge for regulations. Annukka Ritvanen

Transcription

1 Defining congenital anomalies - a challenge for regulations Annukka Ritvanen THL, Helsinki

2 Regulating terminations of pregnancy for fetal abnormality (TOPFA) Ethical and emotional problems Political problems Challenge for regulations and legislation on TOPFAs: - seriousness of abnormality - should the abnormality be more serious in late than in early TOPFAs? - size of risk for abnormality / handicap - upper gestational limit for TOPFA or no upper limit. Gwk-limit to be used? - termination methods for TOPFAs, especially the late ones (>22/24 gwks) - feticide? - time when the abnormality should manifest itself: in utero, at birth, in childhood or later in life - who can decide on TOPFAs: patients, doctors, abortion committees, other - other (local) problems: reliability of prenatal diagnostic techniques, "decision in good faith", follow-up of TOPFAs

3 Abortion Law, Finland 1 5k: When it can be assumed that the child would be mentally retarded or the child would have or would develop a serious disease and structural anomaly (= risk or detected, to be used 20+0 gwk) 5a : When a serious fetal disease or structural anomaly has been detected by a reliable prenatal diagnostic technique (to be used gwk) Permission for TOPFA is always given by the national Abortion Committee at Valvira (National Supervisory Authority for Welfare and Health) TOPFA is not possible >24+0 gwk TOPFAs performed according to Abortion Law are never considered as births (SB 22+0 gwk or 500g / Finnish ICD-10 definitions) gwk TOPFAs not counted in birth statistics.

4 Congenital anomaly Congenital structural anomaly Congenital chromosomal anomaly missbildning, Misbildung, epämuodostuma Congenital abnormality Congenital anomaly Malformation Deformity Disruption Dysplasia Birth defect Developmental defect

5 Prevalence of congenital anomalies 16 % 15 % 12 % 8 % 4 % 3% 2 % 0% Conception Birth 1 year

6 Prevalence of chromosomal and In Finland structural anomalies (%) Cases with major malformation 3% 1800 births/y Multiple malformations 1% 600 births/y Chromosomal defects 0,6% 400 births/y major 250 births/y y= year, births= LB + SB

7 Prevalence of major congenital anomalies, MCA (1/1000 births) by organ group according to literature. According to this: estimated number of births with MCA in Finland (N) Literature Finland 1/1000 births N (estim.) CNS anomalies Cardiovascular anomalies Renal anomalies Limb anomalies Other Total births=newborn children

8 Quality and type of chromosomal and structural congenital anomalies Severity / seriousness of a malformation can vary between a very mild small anomaly and a very severe or even lethal malformation. Major congenital anomalies may be isolated or multiple or part of a syndrome Isolated anomalies (most) Multiple anomalies assosiciations sequencies complexes random Syndromes chromosomal monogenic teratogenic (caused by an external factor) unknown / private

9 What is a serious fetal abnormality / handicap? (1) There is not a clear generally accepted definition of a serious malformation / handicap or of the degree of seriousness opinions vary Different matters are important: technical difficulties in diagnostics / treatment / operation medical / social seriousness of the abnormality seriousness / importance for the individual, family

10 What is a serious fetal abnormality / handicap? (2) Importance for the individual, family - degree of burden Possible death Association with developmental retardation / progressive mental retardation +/- other associated symptoms Possibility of correction - needed operations / organ transplantations Possible problems in the future, how much the anomaly will disturb normal life quality of life

11 What is a serious fetal abnormality / handicap? (2) Conception of a serious congenital abnormality changes and varies in time and space By country, culture, region By family Own experience and knowledge Family situation: age of parents, number and health of previous children, fertility problems, other Ethical / religious conviction Changing / varying possibilities of diagnostics and treatment or of social support (medical and social) Availabe social support and general economical etc. situation New research results Possibilities for prenatal diagnostics - offered prenatal screening General changes / variation in attitudes, legislation Media

12 Special features of fetal structural anomalies Significance ifi of the detected t d fetal anomaly may often be unclear Advanced prenatal screening and diagnostic techniques find more and earlier serious but also milder anomalies - what to do Unclear prenatal diagnosis - worst suspected Same structural anomaly may be serious or mild Degree of seriousness of the detected anomaly cannot often be confirmed by prenatal diagnostics. Degree of associated mental retardation??? The structural anomaly may sometimes improve / heal by itself during pregnancy. The detected anomaly may sometimes be associated with normal fetal development. Sometimes the detected isolated abnormality may refer to or be a symptom of a more severe congenital anomaly or syndrome Screened / diagnosed in early gestational weeks - more serious anomalies found - some of the cases will be spontaneously aborted but it is not known, which ones

13 Classification of the seriousness of congenital anomalies Suggestion for a medical classification: Lethal Severe major Major Minor Other

14 Seriousness of congenital anomaly (1) Lethal - causing death - Lethal practically always. Time of death may vary (during pregnancy, in neonatal period, in infancy or later during childhood) - Treatment does not prevent death

15 Seriousness of congenital anomaly (2) Severe major - Most anomalies are lethal without surgery (w/o organ transplantation) t ti - Some anomalies may necessarily not be not lethal, but disturb life of the individual severily and surgery is always needed (w/o organ transplantation) - Some anomalies cause always severe retardation of development / mental retardation

16 Seriousness of congenital anomalies (3) Major - Most anomalies are usually non-lethal or are lethal only very exceptionally but clearly disturb life of the individual and surgery or other corresponding treatment is always needed - Some anomalies cause, however, always retardation of development / mental retardation of some degree

17 Seriousness of congenital anomalies (4) Minor - mild - Never lethal - Most anomalies do not need any treatment / may solve without treatment - Some anomalies may mildly disturb life and treatment is or may be needed - One can live with / handle the mild problems caused by the anomaly. Problems may be mainly cosmetic - These mild anomalies may, however, be a sign of more severe congenital anomalies or may be associated with a larger entity of multiple anomalies or a syndrome Other - Cause only unspecific symptoms, or fertility problems, etc.

18 Recommended for reading Royal College of Obstetricians and Gynaecologists (RCOG): Termination of pregnancy for Fetal Abnormality, May 2010 In the next five slides In the next five slides interpretation of the RCOGreport by A. Ritvanen

19 AbortionAct, England, Wales and Scotland (1) Termination of pregnancy for fetal abnormality may only be considered if there is a substantial risk that the child, if born, would suffer physical or mental abnormalities that would result in serious handicap. TOPFA will only be lawful, except in emergency, when the two practitioners, who testify by the certificate of opinion form, believe in good faith that the grounds for termination for pregnancy are met addition: There is a time limit in most terminations of pregnancy of 24 gwks but termination is permitted at any gestation on grounds of serious fetal anomaly. There is no legal definition of substantial risk. Whether the risk will There is no legal definition of substantial risk. Whether the risk will be considered as substantial may vary with the seriousness and consequencies of the likely disability. There is no legal definition of serious handicap. Good faith - complicated

20 AbortionAct, England, Wales and Scotland (2) Serious handicap: Provided the condition is not trivial, or readily correctable, or will merely lead to the child being disadvantaged, the law will allow doctors scope for determining the seriousness of a condition. At minimum a serious handicap would require the child to have physical or mental disability which would cause significant suffering or long-term impairment of their ability to function in society.

21 WHO definition of disability Disability: Any restriction or lack (resulting from an impairment) of ability to perform an activity in the manner or within the range considered normal for a human being. Scale: Seriously handicapped: assisted performance: the need for a helping hand dependent performance: complete dependence on the presence of another person

22 RCOG guidance on scaling of severity In scaling the severity, both the size of risk and the gravity of the abnormality are important. Doctors should weigh up the following factors when reaching a decision on the severity of the fetal abnormality: potential for effective treatment, either in utero or after birth child: probable degree of self-awareness and ability of the child to communicate with others child: suffering that would be experienced child: probability of being able to live alone and to be self-supportive as an adult society: the extent to which actions performed by individuals without disability that are essential for health that would have to be provided by others. Unresolved by the Abortion Act: Time when the handicap will manifest Unresolved by the Abortion Act: Time when the handicap will manifest itself in utero at birth in childhood later in life

23 RCOG Conclusion 2010 Unrealistic to produce a definitive list of conditions that constitute serious handicap Sufficiently advanced diagnostic techniques capable of accurately defining abnormalities or of predicting the seriousness of outcomes are not currently available The consequences of the abnormality are difficult to predict: viability residual disability impact in childhood impact on the family An assessment of the seriousness of a fetal abnormality should be considered on a case-by-case basis, taking into account all available clinical information.

24 Seriousness of a fetal abnormality in different gestational weeks Should a fetal abnormality be more serious in later TOPFAs? gwk >24 gwk Possibilities to grade this difference of seriousness? Only lethal in later TOPFAs? Severe malformations that can only be detected in later pregnancy, like serious heart defects? Some abnormalities excluded from later TOPFAs? Political decision?

25 Perinatal mortality (/1000 births, general) by gestational week in Finland (according to Medical Birth Register)

26 Children alive at the age corresponding 42 gwk by birth/gestational t ti week, % of all chidren born at the same gwk, (according to Register on Very Preterm Babies) % GWK

27 Conclusions It is not possible to formulate a clear common definition of a serious fetal abnormality / handicap or of degree of the seriousness. Only some directions and suggestions can be given. No lists of serious fetal abnormalities can be made. Seriousness of a fetal abnormality should be considered on a caseby-case basis. The term "serious abnormality" can be used also in the future regulations and legislation on TOPFAs - without specifying the degree of seriousness Political decisions on: upper gestational limit of TOPFAs (24+0 gwk used widely) whether the fetal abnormality should be more serious in late TOPFAs depends on the upper gestational limit of TOPFAs Future advanced prenatal diagnostic techniques???