Prof. Dr. Ali EKİZ

Prof. Dr. Ali EKİZ

Gynecology and Perinatology (Risky Pregnancy) Specialist

With over 15 years of professional experience, dozens of national and international research articles, and most importantly, his smiling face, Gynecology and Perinatology Specialist Prof. Dr. Ali EKİZ is with you.

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Counseling for Consanguineous Marriage Couples

Why Consanguineous Couples Should Get Counseling?

Consanguineous marriage is known as a type of marriage that takes place between close relatives. Consanguineous marriages are common in some societies and cultures in the past and still are today. Consanguineous marriages are common today in the Middle East, Asia and Africa. For example, the rate of consanguineous marriage in Pakistan is about 60%. The general rate in the world is about 8%. Although the frequency in Turkey is not known exactly, there are publications reporting that it is approximately 20%.

The two types of consanguineous marriage should be well known. The first and highest risk is the first cousin cousin marriage. It is a marriage between cousins. Second-degree cousin-cousin marriage is a marriage between the children of cousins. This is the second highest risk group.

Such marriages increase the risk of a very specific group of genetic diseases (OR, autosomal recessive genetic diseases).

Counseling should be provided to couples with consanguineous marriages. This is known as a type of counseling to provide help and guidance for the specific challenges the couple may face. With consanguineous marriage, some family and relationship dynamics may also change, and couples may face additional challenges brought by this particular situation. In this article, we have compiled the answer to the question of how counseling is for couples with consanguineous marriages.

What are the genetic diseases that increase the risk in consanguineous marriage?

thalassemia

Thalassemia, known as Mediterranean anemia, is one of the most common diseases caused by consanguineous marriage, especially in countries with Mediterranean coasts. Treatment that is used only for cancer patients, such as bone marrow transplantation, is also applied to these patients. This gives information about how dangerous hereditary diseases are. In our country, premarital couples screening test for this disease is routinely applied.

Phenylketonuria

The frequency of the disease, which is caused by the deficiency of the enzyme that metabolizes the amino acid phenylalanine, is 1:4500. The risk of recurrence of this disease, which requires lifelong treatment (diet-follow-up) and can cause severe mental retardation if appropriate treatment is not applied, and even cause the child to be anomaly when pregnant, is 25%. Prenatal diagnosis is possible in these families.

cystic fibrosis

Prenatal diagnosis can be recommended in pregnant women at risk for this disease, which is among the most common hereditary diseases and for which no definitive treatment has yet been found, if family mutations are detected by DNA tests.

Congenital adrenal hyperplasia

The frequency of this disease, in which the production of some hormones called cortisol and aldosterone, is affected in the adrenal glands, is 1:14 000. The disease can progress with life-threatening heavy fluid and salt losses in the neonatal period, and in its milder forms, it can cause differentiation in the male external genitalia of females. That is, it can change the direction of sex development or cause insufficient development. In this disease, which requires life-long hormone therapy, initiation of treatment in the prenatal period is very important in terms of preventing genital anomalies in females. The risk of recurrence of the disease in families with an affected child is 25%. Prenatal diagnosis is possible in these families.

Spinal muscular atrophy (SMA)

The main symptom of this disease with a frequency of 1:10 000 is progressive muscle weakness. The cause of the disease, which can be life-threatening in infancy, is the progressive loss of spinal cord anterior horn cells. As in all autosomal recessive diseases, the prenatal diagnosis of the disease, which has a 25% risk of recurrence, is possible in families where molecular genetic studies have been completed. In our country, premarital couples screening test for this disease is routinely applied.

Sickle Cell Anemia

The disease progresses with severe anemia caused by blood destruction and small vascular occlusions due to defective red blood cell structure. Prenatal diagnosis is possible in the disease with a 25% risk of recurrence.

Suggestions for couples who have had consanguineous marriages:

1- Routine screening for thalassemia is performed in Turkey, and it should be done.

2- Pregnancy ultrasound and screening tests should be performed routinely.

3-Screening tests (for phenycetonuria, galactosemia, Biotinidase and Hypothyroidism) should be performed in the newborn period, and even more than 30 diseases can be screened by performing the extended metabolic screening test with the Tandem MS method.

4- After the baby is born, it should be evaluated in terms of development and a period of at least 3-4 years should be waited for a second pregnancy.

What can be done for diseases other than these diseases in consanguineous marriage?

Apart from these diseases, a common surrogacy panel can be made by taking blood from both couples before pregnancy for other diseases, and thus hundreds of diseases can be screened.

Or, unfortunately, as it is very common in our country, a disease can be detected in the baby in couples who give birth without any of these screenings. If this disease is diagnosed, its presence can be investigated in the next pregnancy. More ideally, in these couples, a healthy embryo can be placed in the uterus with the in vitro fertilization method.

MAKE YOUR APPOINTMENT WITH PROF. DR. ALİ EKİZ!

You can make your appointment with Perinatology (Risky Pregnancy) Specialist Prof. Dr. Ali Ekiz via the WhatsApp button.

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