**6.1. Ethical principles and prenatal counseling**

*Genetic counseling.* A clinical genetic consultation provided by a geneticist with practice in ART is required to the couples before starting PGD treatment. Its purpose is to confirm the genetic diagnosis, to evaluate the reproductive status of the couple, and to provide information about the disease, mode of inheritance, recurrence risk, genetic testing, and reproductive

Genetic counseling by a qualified geneticist or a certified genetic counselor is recommended to the couples to receive support and appropriate information in a nondirective manner and with no pressure, allowing them to make the best choice. Family history, reason for PGD, what is PGD, alternative reproductive options and side effects of treatment, the limitations of testing, success rates (about 30%), and possible outcome options should be discussed, includ-

Also, a multiple birth should be considered when ART is used. Thus, the couple should understand and consider the physical, psychological, and financial impact of treatment [31]. An important part of genetic counseling is to establish the reason for choosing PGD. In most cases, the couples choose PGD to avoid termination of pregnancy due to a genetic disease or to know earliest that the pregnancy is unaffected by a specific genetic abnormality [17]. Other reasons for PGD include a previously affected child or a loss of a child, recurrent abortions, or infertility. When parents are carriers for a recessive disorder, more embryos may be carriers for a mutant allele. The couple must be informed about the genetic status of the embryos and in the absence of a clinical feature in carriers, these can be considered for transfer to increase the number of available embryos. The issue of genetic testing of children for carrier status

should be discussed prior to offering prenatal diagnosis to confirm the PGD result.

risk of losing the pregnancy, and many of them may refuse the confirmatory test [29].

Sex selection is not allowed by law in many countries, while in others, it is allowed. Except some recessive X-linked disorders where females may have a mild phenotype, in these cases, the female embryos should be excluded for transfer, and the parents should be able to choose

After implantation, a new contact with a geneticist is required. Occasionally, when PGD is used, a misdiagnosis can occur; therefore, prenatal diagnosis should be offered. Prenatal diagnosis requires an invasive testing (chorionic villus sampling and amniocentesis) associated with the

The postnatal confirmatory diagnosis from blood is in contrast to recommendations for testing in childhood, which specify that unless there are clinical benefits to testing minors, testing for carrier or late disease conditions should be delayed until the child is old enough to understand the implications and be part of the decision making. In most cases, a successful PGD cycle will result in an ongoing pregnancy and a healthy live born infant. However, a

Biomedical ethics is based on applying various principles in order to create a framework of moral analysis that allows the practitioner to make an optimal decision in agreement with the

options, including PGD [38].

460 Congenital Anomalies - From the Embryo to the Neonate

ing an unsuccessful cycle [29, 30].

not to know the sex of their embryos.

follow-up after birth is recommended.

patients' wishes/needs and their point of view.

**6. Ethical considerations**

In order to improve medical practice in medical genetics and implicitly in prenatal genetic diagnosis, a set of essential ethical principles was developed to support a clinical decision [32, 35]:


Prenatal diagnosis (PD), and here we will only refer to invasive PD, involves a genetic test that allows the diagnosis of a fetus with a serious genetic disorder (and there is an issue of what "serious" means in the opinion of specialists), followed by communication of the data to parents. The purpose of prenatal genetic testing is exclusively medical and testing criteria should be clearly established [34].

When PD is recommended, the couple will be informed, regardless of their perspective on abortion because sometimes it can be useful for psychological and medical training for the birth of a child with a congenital anomaly [34]. However, PD is a voluntary decision of the couple who will decide if the suspected condition requires diagnosis testing or termination of the pregnancy.

In conclusion, ethical aspects surrounding PD are multiple and demanding for both the physician and parents, but using the qualified knowledge of a professional, exposed with much tact and patience, the couple will correctly understand the implications of the problem and their possible solutions/the lack of solutions and will take the best decision based on these

Prenatal Genetic Counseling in Congenital Anomalies http://dx.doi.org/10.5772/intechopen.74394 463

Mihaela Amelia Dobrescu\*, Florin Burada\*, Mihai Gabriel Cucu, Anca Lelia Riza,

\*Address all correspondence to: amelia\_dobrescu@yahoo.com and

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Gratiela Chelu, Razvan Mihail Plesea, Adela Cucu, Alina Liliana Cimpoeru and Mihai Ioana

Medical Genetics Regional Center (CRGM), Dolj, Human Genomics Laboratory, University

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[2] Fonda Allen J, Stoll K, Bernhardt BA. Pre- and post-test genetic counseling for chromosomal and Mendelian disorders. Seminars in Perinatology. 2016 Feb;**40**(1):44-55

[3] Handbook of Genetic Counseling/Trisomy 18—Wikibooks, open books for an open

[4] Wieacker P, Steinhard J. The Prenatal Diagnosis of Genetic Diseases. Deutsches Ärzteblatt

[5] Verma IC, Puri RD. Global burden of genetic disease and the role of genetic screening.

[6] Handbook of Genetic Counseling/Trisomy 13—Advanced Maternal Age—Occupational

[7] Handbook of Genetic Counseling/Down Syndrome—Trisomy 21-1—Wikibooks, open

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Exposures—Wikibooks, open books for an open world

aspects and according to their own convictions.

**Author details**

**References**

pp. 515-523

world

florinburada2000@yahoo.com

The distinctiveness of PD consists in this one-sided decision of the pregnant woman whose sentence affects both herself and the unborn child; if a woman is able to make an independent and well-considered decision, she must have the necessary knowledge to act in the context that PD does not only give information about a potential termination of a pregnancy but also it provides information that will prepare the parents for the birth of an affected child.

For this purpose, pretesting counseling is vital, and it will determine not only the risk of the fetus being affected, but also the chances of it being normal, it will inform about the conditions that can be diagnosed and their consequences not only on the fetus but also on the care/ treatment options. Furthermore, it will also provide counseling regarding the limits of the test, the possibility of an irrelevant or unexpected result, and the couple's options after testing.

If a PD is established, the physician should discuss with the pregnant woman about all the possible aspects of the clinical features, including the heterogeneity of the clinical manifestations. The informed choice of the pregnant woman/couple in the diagnosis of a fetus with congenital malformations will be respected and protected without prejudice, giving importance and priority to the family and sociocultural background in which the couple and the future malformed child will spend their lives.

In the case of PD without medical indication, when the testing is only based on pregnancy/ couple's anxiety, it will be done but with a low priority in allocating resources compared to PD associated with medical reasons. The practice of PD testing with the intention of selecting the child's sex (except for X-linked diseases) is not permitted, as well as the testing of paternity (excepting the pregnancy after an incest or rape) [34].

Particularly, the evolution of technology with the implementation of NGS in PD complicates the ethical aspects because, although genetic diagnosis has been improved, the method has some limitations, some of them common with those of the usual methods of PD [35]:


In conclusion, ethical aspects surrounding PD are multiple and demanding for both the physician and parents, but using the qualified knowledge of a professional, exposed with much tact and patience, the couple will correctly understand the implications of the problem and their possible solutions/the lack of solutions and will take the best decision based on these aspects and according to their own convictions.
